SNP Links for Protein (Select 260763994) - SNP

Links from Protein

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Select item 14904163771.

rs1490416377 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 4:5625784 (GRCh38)
4:5627511 (GRCh37)
Canonical SPDI:: NC_000004.12:5625783:A:C,NC_000004.12:5625783:A:G
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.5625784A>C, NC_000004.12:g.5625784A>G, NC_000004.11:g.5627511A>C, NC_000004.11:g.5627511A>G, NG_015821.1:g.88765T>G, NG_015821.1:g.88765T>C, NM_147127.5:c.2011T>G, NM_147127.5:c.2011T>C, NM_147127.4:c.2011T>G, NM_147127.4:c.2011T>C, NM_001166136.2:c.1771T>G, NM_001166136.2:c.1771T>C, NM_001166136.1:c.1771T>G, NM_001166136.1:c.1771T>C, XM_017007736.2:c.1771T>G, XM_017007736.2:c.1771T>C, XM_017007736.1:c.1771T>G, XM_017007736.1:c.1771T>C, XM_017007738.2:c.2011T>G, XM_017007738.2:c.2011T>C, XM_017007738.1:c.2011T>G, XM_017007738.1:c.2011T>C, XM_047449611.1:c.1771T>G, XM_047449611.1:c.1771T>C, XM_047449610.1:c.1771T>G, XM_047449610.1:c.1771T>C, XM_047449612.1:c.2011T>G, XM_047449612.1:c.2011T>C, NP_667338.3:p.Leu671Val, NP_001159608.1:p.Leu591Val, XP_016863225.1:p.Leu591Val, XP_016863227.1:p.Leu671Val, XP_047305567.1:p.Leu591Val, XP_047305566.1:p.Leu591Val, XP_047305568.1:p.Leu671Val

Select item 14878486732.

rs1487848673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:5618658 (GRCh38)
4:5620385 (GRCh37)
Canonical SPDI:: NC_000004.12:5618657:G:A
Gene:: EVC2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.5618658G>A, NC_000004.11:g.5620385G>A, NG_015821.1:g.95891C>T, NM_147127.5:c.2526C>T, NM_147127.4:c.2526C>T, NM_001166136.2:c.2286C>T, NM_001166136.1:c.2286C>T, XM_017007736.2:c.2286C>T, XM_017007736.1:c.2286C>T, XM_017007738.2:c.2526C>T, XM_017007738.1:c.2526C>T, XM_047449611.1:c.2286C>T, XM_047449610.1:c.2286C>T, XM_047449612.1:c.2526C>T

Select item 14875483553.

rs1487548355 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:5691306 (GRCh38)
4:5693033 (GRCh37)
Canonical SPDI:: NC_000004.12:5691305:C:G
Gene:: EVC2 (Varview)
Functional Consequence:: 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)
G=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.5691306C>G, NC_000004.11:g.5693033C>G, NG_015821.1:g.23243G>C, NM_147127.5:c.478G>C, NM_147127.4:c.478G>C, NM_001166136.2:c.238G>C, NM_001166136.1:c.238G>C, XM_017007736.2:c.238G>C, XM_017007736.1:c.238G>C, XM_017007738.2:c.478G>C, XM_017007738.1:c.478G>C, XM_047449611.1:c.238G>C, XM_047449610.1:c.238G>C, XM_047449612.1:c.478G>C, NP_667338.3:p.Gly160Arg, NP_001159608.1:p.Gly80Arg, XP_016863225.1:p.Gly80Arg, XP_016863227.1:p.Gly160Arg, XP_047305567.1:p.Gly80Arg, XP_047305566.1:p.Gly80Arg, XP_047305568.1:p.Gly160Arg

Select item 14864526364.

rs1486452636 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:5565307 (GRCh38)
4:5567034 (GRCh37)
Canonical SPDI:: NC_000004.12:5565306:T:C
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.5565307T>C, NC_000004.11:g.5567034T>C, NG_015821.1:g.149242A>G, NM_147127.5:c.3610A>G, NM_147127.4:c.3610A>G, NM_001166136.2:c.3370A>G, NM_001166136.1:c.3370A>G, XM_017007736.2:c.3370A>G, XM_017007736.1:c.3370A>G, XM_047449611.1:c.3370A>G, XM_047449610.1:c.3370A>G, NP_667338.3:p.Ile1204Val, NP_001159608.1:p.Ile1124Val, XP_016863225.1:p.Ile1124Val, XP_047305567.1:p.Ile1124Val, XP_047305566.1:p.Ile1124Val

Select item 14856714415.

rs1485671441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:5618637 (GRCh38)
4:5620364 (GRCh37)
Canonical SPDI:: NC_000004.12:5618636:G:A
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5618637G>A, NC_000004.11:g.5620364G>A, NG_015821.1:g.95912C>T, NM_147127.5:c.2547C>T, NM_147127.4:c.2547C>T, NM_001166136.2:c.2307C>T, NM_001166136.1:c.2307C>T, XM_017007736.2:c.2307C>T, XM_017007736.1:c.2307C>T, XM_017007738.2:c.2547C>T, XM_017007738.1:c.2547C>T, XM_047449611.1:c.2307C>T, XM_047449610.1:c.2307C>T, XM_047449612.1:c.2547C>T

Select item 14853898856.

rs1485389885 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:5565329 (GRCh38)
4:5567056 (GRCh37)
Canonical SPDI:: NC_000004.12:5565328:A:G
Gene:: EVC2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000043/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5565329A>G, NC_000004.11:g.5567056A>G, NG_015821.1:g.149220T>C, NM_147127.5:c.3588T>C, NM_147127.4:c.3588T>C, NM_001166136.2:c.3348T>C, NM_001166136.1:c.3348T>C, XM_017007736.2:c.3348T>C, XM_017007736.1:c.3348T>C, XM_047449611.1:c.3348T>C, XM_047449610.1:c.3348T>C

Select item 14844972167.

rs1484497216 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:5640778 (GRCh38)
4:5642505 (GRCh37)
Canonical SPDI:: NC_000004.12:5640777:G:A
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5640778G>A, NC_000004.11:g.5642505G>A, NG_015821.1:g.73771C>T, NM_147127.5:c.1206C>T, NM_147127.4:c.1206C>T, NM_001166136.2:c.966C>T, NM_001166136.1:c.966C>T, NG_083282.1:g.1163G>A, XM_017007736.2:c.966C>T, XM_017007736.1:c.966C>T, XM_017007738.2:c.1206C>T, XM_017007738.1:c.1206C>T, XM_047449611.1:c.966C>T, XM_047449610.1:c.966C>T, XM_047449612.1:c.1206C>T

Select item 14826551638.

rs1482655163 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:5568628 (GRCh38)
4:5570355 (GRCh37)
Canonical SPDI:: NC_000004.12:5568627:C:A
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5568628C>A, NC_000004.11:g.5570355C>A, NG_015821.1:g.145921G>T, NM_147127.5:c.3373G>T, NM_147127.4:c.3373G>T, NM_001166136.2:c.3133G>T, NM_001166136.1:c.3133G>T, XM_017007736.2:c.3133G>T, XM_017007736.1:c.3133G>T, XM_047449611.1:c.3133G>T, XM_047449610.1:c.3133G>T, XM_047449612.1:c.3158G>T, NP_667338.3:p.Ala1125Ser, NP_001159608.1:p.Ala1045Ser, XP_016863225.1:p.Ala1045Ser, XP_047305567.1:p.Ala1045Ser, XP_047305566.1:p.Ala1045Ser, XP_047305568.1:p.Gly1053Val

Select item 14821381409.

rs1482138140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:5689269 (GRCh38)
4:5690996 (GRCh37)
Canonical SPDI:: NC_000004.12:5689268:G:T
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5689269G>T, NC_000004.11:g.5690996G>T, NG_015821.1:g.25280C>A, NM_147127.5:c.594C>A, NM_147127.4:c.594C>A, NM_001166136.2:c.354C>A, NM_001166136.1:c.354C>A, XM_017007736.2:c.354C>A, XM_017007736.1:c.354C>A, XM_017007738.2:c.594C>A, XM_017007738.1:c.594C>A, XM_047449611.1:c.354C>A, XM_047449610.1:c.354C>A, XM_047449612.1:c.594C>A

Select item 148201175410.

rs1482011754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:5631820 (GRCh38)
4:5633547 (GRCh37)
Canonical SPDI:: NC_000004.12:5631819:C:G
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5631820C>G, NC_000004.11:g.5633547C>G, NG_015821.1:g.82729G>C, NM_147127.5:c.1683G>C, NM_147127.4:c.1683G>C, NM_001166136.2:c.1443G>C, NM_001166136.1:c.1443G>C, XM_017007736.2:c.1443G>C, XM_017007736.1:c.1443G>C, XM_017007738.2:c.1683G>C, XM_017007738.1:c.1683G>C, XM_047449611.1:c.1443G>C, XM_047449610.1:c.1443G>C, XM_047449612.1:c.1683G>C, NP_667338.3:p.Met561Ile, NP_001159608.1:p.Met481Ile, XP_016863225.1:p.Met481Ile, XP_016863227.1:p.Met561Ile, XP_047305567.1:p.Met481Ile, XP_047305566.1:p.Met481Ile, XP_047305568.1:p.Met561Ile

Select item 148125676111.

rs1481256761 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:5631854 (GRCh38)
4:5633581 (GRCh37)
Canonical SPDI:: NC_000004.12:5631853:A:G
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.5631854A>G, NC_000004.11:g.5633581A>G, NG_015821.1:g.82695T>C, NM_147127.5:c.1649T>C, NM_147127.4:c.1649T>C, NM_001166136.2:c.1409T>C, NM_001166136.1:c.1409T>C, XM_017007736.2:c.1409T>C, XM_017007736.1:c.1409T>C, XM_017007738.2:c.1649T>C, XM_017007738.1:c.1649T>C, XM_047449611.1:c.1409T>C, XM_047449610.1:c.1409T>C, XM_047449612.1:c.1649T>C, NP_667338.3:p.Phe550Ser, NP_001159608.1:p.Phe470Ser, XP_016863225.1:p.Phe470Ser, XP_016863227.1:p.Phe550Ser, XP_047305567.1:p.Phe470Ser, XP_047305566.1:p.Phe470Ser, XP_047305568.1:p.Phe550Ser

Select item 148092510912.

rs1480925109 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 4:5622828 (GRCh38)
4:5624555 (GRCh37)
Canonical SPDI:: NC_000004.12:5622827:C:G,NC_000004.12:5622827:C:T
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.5622828C>G, NC_000004.12:g.5622828C>T, NC_000004.11:g.5624555C>G, NC_000004.11:g.5624555C>T, NG_015821.1:g.91721G>C, NG_015821.1:g.91721G>A, NM_147127.5:c.2210G>C, NM_147127.5:c.2210G>A, NM_147127.4:c.2210G>C, NM_147127.4:c.2210G>A, NM_001166136.2:c.1970G>C, NM_001166136.2:c.1970G>A, NM_001166136.1:c.1970G>C, NM_001166136.1:c.1970G>A, XM_017007736.2:c.1970G>C, XM_017007736.2:c.1970G>A, XM_017007736.1:c.1970G>C, XM_017007736.1:c.1970G>A, XM_017007738.2:c.2210G>C, XM_017007738.2:c.2210G>A, XM_017007738.1:c.2210G>C, XM_017007738.1:c.2210G>A, XM_047449611.1:c.1970G>C, XM_047449611.1:c.1970G>A, XM_047449610.1:c.1970G>C, XM_047449610.1:c.1970G>A, XM_047449612.1:c.2210G>C, XM_047449612.1:c.2210G>A, NP_667338.3:p.Arg737Thr, NP_667338.3:p.Arg737Lys, NP_001159608.1:p.Arg657Thr, NP_001159608.1:p.Arg657Lys, XP_016863225.1:p.Arg657Thr, XP_016863225.1:p.Arg657Lys, XP_016863227.1:p.Arg737Thr, XP_016863227.1:p.Arg737Lys, XP_047305567.1:p.Arg657Thr, XP_047305567.1:p.Arg657Lys, XP_047305566.1:p.Arg657Thr, XP_047305566.1:p.Arg657Lys, XP_047305568.1:p.Arg737Thr, XP_047305568.1:p.Arg737Lys

Select item 148069341913.

rs1480693419 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:5640764 (GRCh38)
4:5642491 (GRCh37)
Canonical SPDI:: NC_000004.12:5640763:A:G
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.5640764A>G, NC_000004.11:g.5642491A>G, NG_015821.1:g.73785T>C, NM_147127.5:c.1220T>C, NM_147127.4:c.1220T>C, NM_001166136.2:c.980T>C, NM_001166136.1:c.980T>C, NG_083282.1:g.1149A>G, XM_017007736.2:c.980T>C, XM_017007736.1:c.980T>C, XM_017007738.2:c.1220T>C, XM_017007738.1:c.1220T>C, XM_047449611.1:c.980T>C, XM_047449610.1:c.980T>C, XM_047449612.1:c.1220T>C, NP_667338.3:p.Ile407Thr, NP_001159608.1:p.Ile327Thr, XP_016863225.1:p.Ile327Thr, XP_016863227.1:p.Ile407Thr, XP_047305567.1:p.Ile327Thr, XP_047305566.1:p.Ile327Thr, XP_047305568.1:p.Ile407Thr

Select item 148015662914.

rs1480156629 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:5697618 (GRCh38)
4:5699345 (GRCh37)
Canonical SPDI:: NC_000004.12:5697617:C:T
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000028/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.5697618C>T, NC_000004.11:g.5699345C>T, NG_015821.1:g.16931G>A, NM_147127.5:c.258G>A, NM_147127.4:c.258G>A, NM_001166136.2:c.18G>A, NM_001166136.1:c.18G>A, XM_017007736.2:c.18G>A, XM_017007736.1:c.18G>A, XM_017007738.2:c.258G>A, XM_017007738.1:c.258G>A, XM_047449611.1:c.18G>A, XM_047449610.1:c.18G>A, XM_047449612.1:c.258G>A

Select item 147957718315.

rs1479577183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:5622843 (GRCh38)
4:5624570 (GRCh37)
Canonical SPDI:: NC_000004.12:5622842:G:A
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5622843G>A, NC_000004.11:g.5624570G>A, NG_015821.1:g.91706C>T, NM_147127.5:c.2195C>T, NM_147127.4:c.2195C>T, NM_001166136.2:c.1955C>T, NM_001166136.1:c.1955C>T, XM_017007736.2:c.1955C>T, XM_017007736.1:c.1955C>T, XM_017007738.2:c.2195C>T, XM_017007738.1:c.2195C>T, XM_047449611.1:c.1955C>T, XM_047449610.1:c.1955C>T, XM_047449612.1:c.2195C>T, NP_667338.3:p.Ala732Val, NP_001159608.1:p.Ala652Val, XP_016863225.1:p.Ala652Val, XP_016863227.1:p.Ala732Val, XP_047305567.1:p.Ala652Val, XP_047305566.1:p.Ala652Val, XP_047305568.1:p.Ala732Val

Select item 147906759916.

rs1479067599 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 4:5694449 (GRCh38)
4:5696176 (GRCh37)
Canonical SPDI:: NC_000004.12:5694448:T:C,NC_000004.12:5694448:T:G
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.002183/4 (Korea1K)
HGVS:: NC_000004.12:g.5694449T>C, NC_000004.12:g.5694449T>G, NC_000004.11:g.5696176T>C, NC_000004.11:g.5696176T>G, NG_015821.1:g.20100A>G, NG_015821.1:g.20100A>C, NM_147127.5:c.336A>G, NM_147127.5:c.336A>C, NM_147127.4:c.336A>G, NM_147127.4:c.336A>C, NM_001166136.2:c.96A>G, NM_001166136.2:c.96A>C, NM_001166136.1:c.96A>G, NM_001166136.1:c.96A>C, XM_017007736.2:c.96A>G, XM_017007736.2:c.96A>C, XM_017007736.1:c.96A>G, XM_017007736.1:c.96A>C, XM_017007738.2:c.336A>G, XM_017007738.2:c.336A>C, XM_017007738.1:c.336A>G, XM_017007738.1:c.336A>C, XM_047449611.1:c.96A>G, XM_047449611.1:c.96A>C, XM_047449610.1:c.96A>G, XM_047449610.1:c.96A>C, XM_047449612.1:c.336A>G, XM_047449612.1:c.336A>C

Select item 147861373817.

rs1478613738 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:5640625 (GRCh38)
4:5642352 (GRCh37)
Canonical SPDI:: NC_000004.12:5640624:T:A
Gene:: EVC2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Clinical significance:: likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000004.12:g.5640625T>A, NC_000004.11:g.5642352T>A, NG_015821.1:g.73924A>T, NM_147127.5:c.1359A>T, NM_147127.4:c.1359A>T, NM_001166136.2:c.1119A>T, NM_001166136.1:c.1119A>T, NG_083282.1:g.1010T>A, XM_017007736.2:c.1119A>T, XM_017007736.1:c.1119A>T, XM_017007738.2:c.1359A>T, XM_017007738.1:c.1359A>T, XM_047449611.1:c.1119A>T, XM_047449610.1:c.1119A>T, XM_047449612.1:c.1359A>T

Select item 147693653918.

rs1476936539 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 4:5565267 (GRCh38)
4:5566994 (GRCh37)
Canonical SPDI:: NC_000004.12:5565266:C:G
Gene:: EVC2 (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5565267C>G, NC_000004.11:g.5566994C>G, NG_015821.1:g.149282G>C, NM_147127.5:c.3650G>C, NM_147127.4:c.3650G>C, NM_001166136.2:c.3410G>C, NM_001166136.1:c.3410G>C, XM_017007736.2:c.3410G>C, XM_017007736.1:c.3410G>C, XM_047449611.1:c.3410G>C, XM_047449610.1:c.3410G>C, NP_667338.3:p.Arg1217Thr, NP_001159608.1:p.Arg1137Thr, XP_016863225.1:p.Arg1137Thr, XP_047305567.1:p.Arg1137Thr, XP_047305566.1:p.Arg1137Thr

Select item 147651850819.

rs1476518508 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 4:5576454 (GRCh38)
4:5578181 (GRCh37)
Canonical SPDI:: NC_000004.12:5576453:C:T
Gene:: EVC2 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5576454C>T, NC_000004.11:g.5578181C>T, NG_015821.1:g.138095G>A, NM_147127.5:c.3058G>A, NM_147127.4:c.3058G>A, NM_001166136.2:c.2818G>A, NM_001166136.1:c.2818G>A, XM_017007736.2:c.2818G>A, XM_017007736.1:c.2818G>A, XM_017007738.2:c.3058G>A, XM_017007738.1:c.3058G>A, XM_047449611.1:c.2818G>A, XM_047449610.1:c.2818G>A, NP_667338.3:p.Glu1020Lys, NP_001159608.1:p.Glu940Lys, XP_016863225.1:p.Glu940Lys, XP_016863227.1:p.Glu1020Lys, XP_047305567.1:p.Glu940Lys, XP_047305566.1:p.Glu940Lys

Select item 147595131020.

rs1475951310 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 4:5665615 (GRCh38)
4:5667342 (GRCh37)
Canonical SPDI:: NC_000004.12:5665614:AA:
Gene:: EVC2 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000004.12:g.5665615_5665616del, NC_000004.11:g.5667342_5667343del, NG_015821.1:g.48933_48934del, NM_147127.5:c.904_905del, NM_147127.4:c.904_905del, NM_001166136.2:c.664_665del, NM_001166136.1:c.664_665del, NG_083283.1:g.1374_1375del, XM_017007736.2:c.664_665del, XM_017007736.1:c.664_665del, XM_017007738.2:c.904_905del, XM_017007738.1:c.904_905del, XM_047449611.1:c.664_665del, XM_047449610.1:c.664_665del, XM_047449612.1:c.904_905del, NP_667338.3:p.Phe302fs, NP_001159608.1:p.Phe222fs, XP_016863225.1:p.Phe222fs, XP_016863227.1:p.Phe302fs, XP_047305567.1:p.Phe222fs, XP_047305566.1:p.Phe222fs, XP_047305568.1:p.Phe302fs

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