SNP Links for Protein (Select 195927027) - SNP - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Protein

Items: 1 to 20 of 544

<< First< Prev

Page of 28

Select item 14895694381.

rs1489569438 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44784273 (GRCh38)
19:45287530 (GRCh37)
Canonical SPDI:: NC_000019.10:44784272:C:G
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44784273C>G, NC_000019.9:g.45287530C>G, NG_054718.1:g.11419C>G, NM_012116.4:c.789C>G, NM_012116.3:c.789C>G, XM_005258696.4:c.789C>G, XM_005258696.3:c.789C>G, XM_005258696.2:c.789C>G, XM_005258696.1:c.789C>G, XM_011526688.3:c.789C>G, XM_011526688.2:c.789C>G, XM_011526688.1:c.789C>G, XM_011526690.3:c.667C>G, XM_011526690.2:c.667C>G, XM_011526690.1:c.667C>G, XM_047438551.1:c.789C>G, XM_047438552.1:c.667C>G, NP_036248.3:p.Phe263Leu, XP_005258753.1:p.Phe263Leu, XP_011524990.1:p.Phe263Leu, XP_011524992.1:p.Pro223Ala, XP_047294507.1:p.Phe263Leu, XP_047294508.1:p.Pro223Ala

Select item 14870145712.

rs1487014571 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44780988 (GRCh38)
19:45284245 (GRCh37)
Canonical SPDI:: NC_000019.10:44780987:G:A
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44780988G>A, NC_000019.9:g.45284245G>A, NG_054718.1:g.8134G>A, NM_012116.4:c.437G>A, NM_012116.3:c.437G>A, NM_001130852.1:c.437G>A, XM_005258696.4:c.437G>A, XM_005258696.3:c.437G>A, XM_005258696.2:c.437G>A, XM_005258696.1:c.437G>A, XM_011526688.3:c.437G>A, XM_011526688.2:c.437G>A, XM_011526688.1:c.437G>A, XM_011526689.3:c.437G>A, XM_011526689.2:c.437G>A, XM_011526689.1:c.437G>A, XM_011526690.3:c.437G>A, XM_011526690.2:c.437G>A, XM_011526690.1:c.437G>A, XM_047438551.1:c.437G>A, XM_047438552.1:c.437G>A, NP_036248.3:p.Gly146Glu, NP_001124324.1:p.Gly146Glu, XP_005258753.1:p.Gly146Glu, XP_011524990.1:p.Gly146Glu, XP_011524991.1:p.Gly146Glu, XP_011524992.1:p.Gly146Glu, XP_047294507.1:p.Gly146Glu, XP_047294508.1:p.Gly146Glu

Select item 14860053853.

rs1486005385 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44784277 (GRCh38)
19:45287534 (GRCh37)
Canonical SPDI:: NC_000019.10:44784276:C:T
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44784277C>T, NC_000019.9:g.45287534C>T, NG_054718.1:g.11423C>T, NM_012116.4:c.793C>T, NM_012116.3:c.793C>T, XM_005258696.4:c.793C>T, XM_005258696.3:c.793C>T, XM_005258696.2:c.793C>T, XM_005258696.1:c.793C>T, XM_011526688.3:c.793C>T, XM_011526688.2:c.793C>T, XM_011526688.1:c.793C>T, XM_011526690.3:c.671C>T, XM_011526690.2:c.671C>T, XM_011526690.1:c.671C>T, XM_047438551.1:c.793C>T, XM_047438552.1:c.671C>T, NP_036248.3:p.Pro265Ser, XP_005258753.1:p.Pro265Ser, XP_011524990.1:p.Pro265Ser, XP_011524992.1:p.Ala224Val, XP_047294507.1:p.Pro265Ser, XP_047294508.1:p.Ala224Val

Select item 14831705984.

rs1483170598 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44782380 (GRCh38)
19:45285637 (GRCh37)
Canonical SPDI:: NC_000019.10:44782379:C:T
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44782380C>T, NC_000019.9:g.45285637C>T, NG_054718.1:g.9526C>T, NM_012116.4:c.668C>T, NM_012116.3:c.668C>T, NM_001130852.1:c.668C>T, XM_005258696.4:c.668C>T, XM_005258696.3:c.668C>T, XM_005258696.2:c.668C>T, XM_005258696.1:c.668C>T, XM_011526688.3:c.668C>T, XM_011526688.2:c.668C>T, XM_011526688.1:c.668C>T, XM_011526689.3:c.668C>T, XM_011526689.2:c.668C>T, XM_011526689.1:c.668C>T, XM_047438551.1:c.668C>T, NP_036248.3:p.Thr223Ile, NP_001124324.1:p.Thr223Ile, XP_005258753.1:p.Thr223Ile, XP_011524990.1:p.Thr223Ile, XP_011524991.1:p.Thr223Ile, XP_047294507.1:p.Thr223Ile

Select item 14804442515.

rs1480444251 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44784333 (GRCh38)
19:45287590 (GRCh37)
Canonical SPDI:: NC_000019.10:44784332:C:T
Gene:: CBLC (Varview)
Functional Consequence:: synonymous_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44784333C>T, NC_000019.9:g.45287590C>T, NG_054718.1:g.11479C>T, NM_012116.4:c.849C>T, NM_012116.3:c.849C>T, XM_005258696.4:c.849C>T, XM_005258696.3:c.849C>T, XM_005258696.2:c.849C>T, XM_005258696.1:c.849C>T, XM_011526688.3:c.849C>T, XM_011526688.2:c.849C>T, XM_011526688.1:c.849C>T, XM_011526690.3:c.727C>T, XM_011526690.2:c.727C>T, XM_011526690.1:c.727C>T, XM_047438551.1:c.849C>T, XM_047438552.1:c.727C>T, XP_011524992.1:p.His243Tyr, XP_047294508.1:p.His243Tyr

Select item 14779455756.

rs1477945575 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44793608 (GRCh38)
19:45296865 (GRCh37)
Canonical SPDI:: NC_000019.10:44793607:G:A
Gene:: CBLC (Varview)
Functional Consequence:: synonymous_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.44793608G>A, NC_000019.9:g.45296865G>A, NG_054718.1:g.20754G>A, NM_012116.4:c.1272G>A, NM_012116.3:c.1272G>A, NM_001130852.1:c.1134G>A, XM_005258696.4:c.1272G>A, XM_005258696.3:c.1272G>A, XM_005258696.2:c.1272G>A, XM_005258696.1:c.1272G>A, XM_011526688.3:c.1272G>A, XM_011526688.2:c.1272G>A, XM_011526688.1:c.1272G>A, XM_011526689.3:c.1134G>A, XM_011526689.2:c.1134G>A, XM_011526689.1:c.1134G>A

Select item 14740129717.

rs1474012971 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44794208 (GRCh38)
19:45297465 (GRCh37)
Canonical SPDI:: NC_000019.10:44794207:C:G
Gene:: CBLC (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44794208C>G, NC_000019.9:g.45297465C>G, NG_054718.1:g.21354C>G, NM_012116.4:c.1289C>G, NM_012116.3:c.1289C>G, NM_001130852.1:c.1151C>G, XM_011526688.3:c.1289C>G, XM_011526688.2:c.1289C>G, XM_011526688.1:c.1289C>G, XM_011526689.3:c.1151C>G, XM_011526689.2:c.1151C>G, XM_011526689.1:c.1151C>G, NP_036248.3:p.Pro430Arg, NP_001124324.1:p.Pro384Arg, XP_011524990.1:p.Pro430Arg, XP_011524991.1:p.Pro384Arg

Select item 14708150908.

rs1470815090 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44800399 (GRCh38)
19:45303656 (GRCh37)
Canonical SPDI:: NC_000019.10:44800398:T:C
Gene:: CBLC (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.44800399T>C, NC_000019.9:g.45303656T>C, NG_054718.1:g.27545T>C, NM_012116.4:c.1381T>C, NM_012116.3:c.1381T>C, NM_001130852.1:c.1243T>C, NP_036248.3:p.Ser461Pro, NP_001124324.1:p.Ser415Pro

Select item 14656382799.

rs1465638279 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:44778280 (GRCh38)
19:45281537 (GRCh37)
Canonical SPDI:: NC_000019.10:44778279:C:G
Gene:: CBLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.44778280C>G, NC_000019.9:g.45281537C>G, NG_054718.1:g.5426C>G, NM_012116.4:c.349C>G, NM_012116.3:c.349C>G, NM_001130852.1:c.349C>G, XM_005258696.4:c.349C>G, XM_005258696.3:c.349C>G, XM_005258696.2:c.349C>G, XM_005258696.1:c.349C>G, XM_011526688.3:c.349C>G, XM_011526688.2:c.349C>G, XM_011526688.1:c.349C>G, XM_011526689.3:c.349C>G, XM_011526689.2:c.349C>G, XM_011526689.1:c.349C>G, XM_011526690.3:c.349C>G, XM_011526690.2:c.349C>G, XM_011526690.1:c.349C>G, XM_047438551.1:c.349C>G, XM_047438552.1:c.349C>G, NP_036248.3:p.Leu117Val, NP_001124324.1:p.Leu117Val, XP_005258753.1:p.Leu117Val, XP_011524990.1:p.Leu117Val, XP_011524991.1:p.Leu117Val, XP_011524992.1:p.Leu117Val, XP_047294507.1:p.Leu117Val, XP_047294508.1:p.Leu117Val

Select item 146354051410.

rs1463540514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44782488 (GRCh38)
19:45285745 (GRCh37)
Canonical SPDI:: NC_000019.10:44782487:G:A
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44782488G>A, NC_000019.9:g.45285745G>A, NG_054718.1:g.9634G>A, NM_012116.4:c.776G>A, NM_012116.3:c.776G>A, NM_001130852.1:c.776G>A, XM_005258696.4:c.776G>A, XM_005258696.3:c.776G>A, XM_005258696.2:c.776G>A, XM_005258696.1:c.776G>A, XM_011526688.3:c.776G>A, XM_011526688.2:c.776G>A, XM_011526688.1:c.776G>A, XM_011526689.3:c.776G>A, XM_011526689.2:c.776G>A, XM_011526689.1:c.776G>A, XM_047438551.1:c.776G>A, NP_036248.3:p.Gly259Asp, NP_001124324.1:p.Gly259Asp, XP_005258753.1:p.Gly259Asp, XP_011524990.1:p.Gly259Asp, XP_011524991.1:p.Gly259Asp, XP_047294507.1:p.Gly259Asp

Select item 146089472111.

rs1460894721 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44782414 (GRCh38)
19:45285671 (GRCh37)
Canonical SPDI:: NC_000019.10:44782413:C:T
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44782414C>T, NC_000019.9:g.45285671C>T, NG_054718.1:g.9560C>T, NM_012116.4:c.702C>T, NM_012116.3:c.702C>T, NM_001130852.1:c.702C>T, XM_005258696.4:c.702C>T, XM_005258696.3:c.702C>T, XM_005258696.2:c.702C>T, XM_005258696.1:c.702C>T, XM_011526688.3:c.702C>T, XM_011526688.2:c.702C>T, XM_011526688.1:c.702C>T, XM_011526689.3:c.702C>T, XM_011526689.2:c.702C>T, XM_011526689.1:c.702C>T, XM_047438551.1:c.702C>T

Select item 145879065312.

rs1458790653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44792392 (GRCh38)
19:45295649 (GRCh37)
Canonical SPDI:: NC_000019.10:44792391:C:T
Gene:: CBLC (Varview)
Functional Consequence:: 3_prime_UTR_variant,stop_gained,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44792392C>T, NC_000019.9:g.45295649C>T, NG_054718.1:g.19538C>T, NM_012116.4:c.1015C>T, NM_012116.3:c.1015C>T, NM_001130852.1:c.877C>T, XM_005258696.4:c.1015C>T, XM_005258696.3:c.1015C>T, XM_005258696.2:c.1015C>T, XM_005258696.1:c.1015C>T, XM_011526688.3:c.1015C>T, XM_011526688.2:c.1015C>T, XM_011526688.1:c.1015C>T, XM_011526689.3:c.877C>T, XM_011526689.2:c.877C>T, XM_011526689.1:c.877C>T, XM_011526690.3:c.*57C>T, XM_011526690.2:c.*57C>T, XM_011526690.1:c.*57C>T, XM_047438552.1:c.*53C>T, NP_036248.3:p.Gln339Ter, NP_001124324.1:p.Gln293Ter, XP_005258753.1:p.Gln339Ter, XP_011524990.1:p.Gln339Ter, XP_011524991.1:p.Gln293Ter

Select item 145729306713.

rs1457293067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44782483 (GRCh38)
19:45285740 (GRCh37)
Canonical SPDI:: NC_000019.10:44782482:G:A
Gene:: CBLC (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.44782483G>A, NC_000019.9:g.45285740G>A, NG_054718.1:g.9629G>A, NM_012116.4:c.771G>A, NM_012116.3:c.771G>A, NM_001130852.1:c.771G>A, XM_005258696.4:c.771G>A, XM_005258696.3:c.771G>A, XM_005258696.2:c.771G>A, XM_005258696.1:c.771G>A, XM_011526688.3:c.771G>A, XM_011526688.2:c.771G>A, XM_011526688.1:c.771G>A, XM_011526689.3:c.771G>A, XM_011526689.2:c.771G>A, XM_011526689.1:c.771G>A, XM_047438551.1:c.771G>A

Select item 145512611514.

rs1455126115 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:44778102 (GRCh38)
19:45281359 (GRCh37)
Canonical SPDI:: NC_000019.10:44778101:G:T
Gene:: CBLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44778102G>T, NC_000019.9:g.45281359G>T, NG_054718.1:g.5248G>T, NM_012116.4:c.171G>T, NM_012116.3:c.171G>T, NM_001130852.1:c.171G>T, XM_005258696.4:c.171G>T, XM_005258696.3:c.171G>T, XM_005258696.2:c.171G>T, XM_005258696.1:c.171G>T, XM_011526688.3:c.171G>T, XM_011526688.2:c.171G>T, XM_011526688.1:c.171G>T, XM_011526689.3:c.171G>T, XM_011526689.2:c.171G>T, XM_011526689.1:c.171G>T, XM_011526690.3:c.171G>T, XM_011526690.2:c.171G>T, XM_011526690.1:c.171G>T, XM_047438551.1:c.171G>T, XM_047438552.1:c.171G>T, NP_036248.3:p.Glu57Asp, NP_001124324.1:p.Glu57Asp, XP_005258753.1:p.Glu57Asp, XP_011524990.1:p.Glu57Asp, XP_011524991.1:p.Glu57Asp, XP_011524992.1:p.Glu57Asp, XP_047294507.1:p.Glu57Asp, XP_047294508.1:p.Glu57Asp

Select item 145504271015.

rs1455042710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:44778166 (GRCh38)
19:45281423 (GRCh37)
Canonical SPDI:: NC_000019.10:44778165:T:G
Gene:: CBLC (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44778166T>G, NC_000019.9:g.45281423T>G, NG_054718.1:g.5312T>G, NM_012116.4:c.235T>G, NM_012116.3:c.235T>G, NM_001130852.1:c.235T>G, XM_005258696.4:c.235T>G, XM_005258696.3:c.235T>G, XM_005258696.2:c.235T>G, XM_005258696.1:c.235T>G, XM_011526688.3:c.235T>G, XM_011526688.2:c.235T>G, XM_011526688.1:c.235T>G, XM_011526689.3:c.235T>G, XM_011526689.2:c.235T>G, XM_011526689.1:c.235T>G, XM_011526690.3:c.235T>G, XM_011526690.2:c.235T>G, XM_011526690.1:c.235T>G, XM_047438551.1:c.235T>G, XM_047438552.1:c.235T>G, NP_036248.3:p.Phe79Val, NP_001124324.1:p.Phe79Val, XP_005258753.1:p.Phe79Val, XP_011524990.1:p.Phe79Val, XP_011524991.1:p.Phe79Val, XP_011524992.1:p.Phe79Val, XP_047294507.1:p.Phe79Val, XP_047294508.1:p.Phe79Val

Select item 145424534516.

rs1454245345 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44792406 (GRCh38)
19:45295663 (GRCh37)
Canonical SPDI:: NC_000019.10:44792405:C:T
Gene:: CBLC (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44792406C>T, NC_000019.9:g.45295663C>T, NG_054718.1:g.19552C>T, NM_012116.4:c.1029C>T, NM_012116.3:c.1029C>T, NM_001130852.1:c.891C>T, XM_005258696.4:c.1029C>T, XM_005258696.3:c.1029C>T, XM_005258696.2:c.1029C>T, XM_005258696.1:c.1029C>T, XM_011526688.3:c.1029C>T, XM_011526688.2:c.1029C>T, XM_011526688.1:c.1029C>T, XM_011526689.3:c.891C>T, XM_011526689.2:c.891C>T, XM_011526689.1:c.891C>T, XM_011526690.3:c.*71C>T, XM_011526690.2:c.*71C>T, XM_011526690.1:c.*71C>T, XM_047438552.1:c.*67C>T

Select item 145227750017.

rs1452277500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:44784347 (GRCh38)
19:45287604 (GRCh37)
Canonical SPDI:: NC_000019.10:44784346:T:C
Gene:: CBLC (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.44784347T>C, NC_000019.9:g.45287604T>C, NG_054718.1:g.11493T>C, NM_012116.4:c.863T>C, NM_012116.3:c.863T>C, XM_005258696.4:c.863T>C, XM_005258696.3:c.863T>C, XM_005258696.2:c.863T>C, XM_005258696.1:c.863T>C, XM_011526688.3:c.863T>C, XM_011526688.2:c.863T>C, XM_011526688.1:c.863T>C, XM_011526690.3:c.741T>C, XM_011526690.2:c.741T>C, XM_011526690.1:c.741T>C, XM_047438551.1:c.863T>C, XM_047438552.1:c.741T>C, NP_036248.3:p.Ile288Thr, XP_005258753.1:p.Ile288Thr, XP_011524990.1:p.Ile288Thr, XP_047294507.1:p.Ile288Thr

Select item 144981022118.

rs1449810221 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:44778090 (GRCh38)
19:45281347 (GRCh37)
Canonical SPDI:: NC_000019.10:44778089:G:A
Gene:: CBLC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.44778090G>A, NC_000019.9:g.45281347G>A, NG_054718.1:g.5236G>A, NM_012116.4:c.159G>A, NM_012116.3:c.159G>A, NM_001130852.1:c.159G>A, XM_005258696.4:c.159G>A, XM_005258696.3:c.159G>A, XM_005258696.2:c.159G>A, XM_005258696.1:c.159G>A, XM_011526688.3:c.159G>A, XM_011526688.2:c.159G>A, XM_011526688.1:c.159G>A, XM_011526689.3:c.159G>A, XM_011526689.2:c.159G>A, XM_011526689.1:c.159G>A, XM_011526690.3:c.159G>A, XM_011526690.2:c.159G>A, XM_011526690.1:c.159G>A, XM_047438551.1:c.159G>A, XM_047438552.1:c.159G>A

Select item 144729318719.

rs1447293187 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44781321 (GRCh38)
19:45284578 (GRCh37)
Canonical SPDI:: NC_000019.10:44781320:C:T
Gene:: CBLC (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.44781321C>T, NC_000019.9:g.45284578C>T, NG_054718.1:g.8467C>T, NM_012116.4:c.615C>T, NM_012116.3:c.615C>T, NM_001130852.1:c.615C>T, XM_005258696.4:c.615C>T, XM_005258696.3:c.615C>T, XM_005258696.2:c.615C>T, XM_005258696.1:c.615C>T, XM_011526688.3:c.615C>T, XM_011526688.2:c.615C>T, XM_011526688.1:c.615C>T, XM_011526689.3:c.615C>T, XM_011526689.2:c.615C>T, XM_011526689.1:c.615C>T, XM_011526690.3:c.615C>T, XM_011526690.2:c.615C>T, XM_011526690.1:c.615C>T, XM_047438551.1:c.615C>T, XM_047438552.1:c.615C>T

Select item 144703597620.

rs1447035976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:44794246 (GRCh38)
19:45297503 (GRCh37)
Canonical SPDI:: NC_000019.10:44794245:C:T
Gene:: CBLC (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.44794246C>T, NC_000019.9:g.45297503C>T, NG_054718.1:g.21392C>T, NM_012116.4:c.1327C>T, NM_012116.3:c.1327C>T, NM_001130852.1:c.1189C>T, XM_011526688.3:c.1327C>T, XM_011526688.2:c.1327C>T, XM_011526688.1:c.1327C>T, XM_011526689.3:c.1189C>T, XM_011526689.2:c.1189C>T, XM_011526689.1:c.1189C>T, NP_036248.3:p.Pro443Ser, NP_001124324.1:p.Pro397Ser, XP_011524990.1:p.Pro443Ser, XP_011524991.1:p.Pro397Ser

<< First< Prev

Page of 28

Supplemental Content

Filters: Manage Filters

Find related data

Recent activity

Clear Turn Off Turn On

SNP Links for Protein (Select 195927027) (544)
SNP

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...