SNP Links for Protein (Select 4759048) - SNP

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Links from Protein

Items: 1 to 20 of 60

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Select item 14859770021.

rs1485977002 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27772685 (GRCh38)
2:27995552 (GRCh37)
Canonical SPDI:: NC_000002.12:27772684:A:G
Gene:: MRPL33 (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)
HGVS:: NC_000002.12:g.27772685A>G, NC_000002.11:g.27995552A>G, NM_004891.4:c.34A>G, NM_004891.3:c.34A>G, NM_145330.3:c.34A>G, NM_145330.2:c.34A>G, NP_004882.1:p.Lys12Glu, NP_663303.1:p.Lys12Glu

Select item 14745127332.

rs1474512733 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 2:27779462 (GRCh38)
2:28002329 (GRCh37)
Canonical SPDI:: NC_000002.12:27779461:AAAAAAA:AAAAAA,NC_000002.12:27779461:AAAAAAA:AAAAAAAA
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by cluster
MAF:: -=0.000007/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27779468del, NC_000002.12:g.27779468dup, NC_000002.11:g.28002335del, NC_000002.11:g.28002335dup, NM_004891.4:c.184del, NM_004891.4:c.184dup, NM_004891.3:c.184del, NM_004891.3:c.184dup, NM_145330.3:c.77del, NM_145330.3:c.77dup, NM_145330.2:c.77del, NM_145330.2:c.77dup, NP_004882.1:p.Ile62fs, NP_004882.1:p.Ile62fs, NP_663303.1:p.Asn26fs, NP_663303.1:p.Asn26fs

Select item 14667431363.

rs1466743136 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27774488 (GRCh38)
2:27997355 (GRCh37)
Canonical SPDI:: NC_000002.12:27774487:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27774488C>T, NC_000002.11:g.27997355C>T, NM_004891.4:c.106C>T, NM_004891.3:c.106C>T, NP_004882.1:p.Arg36Ter

Select item 14205661344.

rs1420566134 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 2:27779471 (GRCh38)
2:28002338 (GRCh37)
Canonical SPDI:: NC_000002.12:27779470:C:
Gene:: MRPL33 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: -=0.000004/1 (GnomAD_exomes)
-=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.27779471del, NC_000002.11:g.28002338del, NM_004891.4:c.187del, NM_004891.3:c.187del, NM_145330.3:c.80del, NM_145330.2:c.80del, NP_004882.1:p.Arg63fs, NP_663303.1:p.Thr27fs

Select item 14202305935.

rs1420230593 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27774512 (GRCh38)
2:27997379 (GRCh37)
Canonical SPDI:: NC_000002.12:27774511:T:C
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27774512T>C, NC_000002.11:g.27997379T>C, NM_004891.4:c.130T>C, NM_004891.3:c.130T>C

Select item 13999091926.

rs1399909192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27774524 (GRCh38)
2:27997391 (GRCh37)
Canonical SPDI:: NC_000002.12:27774523:C:G
Gene:: MRPL33 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27774524C>G, NC_000002.11:g.27997391C>G, NM_004891.4:c.142C>G, NM_004891.3:c.142C>G, NP_004882.1:p.Pro48Ala

Select item 13735158097.

rs1373515809 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27772691 (GRCh38)
2:27995558 (GRCh37)
Canonical SPDI:: NC_000002.12:27772690:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27772691A>G, NC_000002.11:g.27995558A>G, NM_004891.4:c.40A>G, NM_004891.3:c.40A>G, NM_145330.3:c.40A>G, NM_145330.2:c.40A>G, NP_004882.1:p.Lys14Glu, NP_663303.1:p.Asn14Asp

Select item 13734990518.

rs1373499051 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:27779476 (GRCh38)
2:28002343 (GRCh37)
Canonical SPDI:: NC_000002.12:27779475:C:A
Gene:: MRPL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27779476C>A, NC_000002.11:g.28002343C>A, NM_004891.4:c.192C>A, NM_004891.3:c.192C>A, NM_145330.3:c.85C>A, NM_145330.2:c.85C>A, NP_663303.1:p.Pro29Thr

Select item 13691058209.

rs1369105820 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:27771794 (GRCh38)
2:27994661 (GRCh37)
Canonical SPDI:: NC_000002.12:27771793:T:C
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000002.12:g.27771794T>C, NC_000002.11:g.27994661T>C, NM_004891.4:c.17T>C, NM_004891.3:c.17T>C, NM_145330.3:c.17T>C, NM_145330.2:c.17T>C, NP_004882.1:p.Val6Ala, NP_663303.1:p.Val6Ala

Select item 134034475610.

rs1340344756 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27771788 (GRCh38)
2:27994655 (GRCh37)
Canonical SPDI:: NC_000002.12:27771787:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27771788C>T, NC_000002.11:g.27994655C>T, NM_004891.4:c.11C>T, NM_004891.3:c.11C>T, NM_145330.3:c.11C>T, NM_145330.2:c.11C>T, NP_004882.1:p.Ser4Phe, NP_663303.1:p.Ser4Phe

Select item 133365564311.

rs1333655643 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27771795 (GRCh38)
2:27994662 (GRCh37)
Canonical SPDI:: NC_000002.12:27771794:C:G
Gene:: MRPL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/6 (ALFA)
G=0.000043/6 (GnomAD)
G=0.000136/36 (TOPMED)
HGVS:: NC_000002.12:g.27771795C>G, NC_000002.11:g.27994662C>G, NM_004891.4:c.18C>G, NM_004891.3:c.18C>G, NM_145330.3:c.18C>G, NM_145330.2:c.18C>G

Select item 132908168412.

rs1329081684 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:27774493 (GRCh38)
2:27997360 (GRCh37)
Canonical SPDI:: NC_000002.12:27774492:G:A
Gene:: MRPL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.27774493G>A, NC_000002.11:g.27997360G>A, NM_004891.4:c.111G>A, NM_004891.3:c.111G>A

Select item 132681634213.

rs1326816342 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27774519 (GRCh38)
2:27997386 (GRCh37)
Canonical SPDI:: NC_000002.12:27774518:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27774519A>G, NC_000002.11:g.27997386A>G, NM_004891.4:c.137A>G, NM_004891.3:c.137A>G, NP_004882.1:p.Tyr46Cys

Select item 131541249714.

rs1315412497 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:27771798 (GRCh38)
2:27994665 (GRCh37)
Canonical SPDI:: NC_000002.12:27771797:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27771798C>T, NC_000002.11:g.27994665C>T, NM_004891.4:c.21C>T, NM_004891.3:c.21C>T, NM_145330.3:c.21C>T, NM_145330.2:c.21C>T

Select item 130755507815.

rs1307555078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:27779434 (GRCh38)
2:28002301 (GRCh37)
Canonical SPDI:: NC_000002.12:27779433:G:C
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27779434G>C, NC_000002.11:g.28002301G>C, NM_004891.4:c.150G>C, NM_004891.3:c.150G>C, NM_145330.3:c.43G>C, NM_145330.2:c.43G>C, NP_663303.1:p.Glu15Gln

Select item 122219830916.

rs1222198309 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 2:27774466 (GRCh38)
2:27997333 (GRCh37)
Canonical SPDI:: NC_000002.12:27774465:C:G
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27774466C>G, NC_000002.11:g.27997333C>G, NM_004891.4:c.84C>G, NM_004891.3:c.84C>G, NP_004882.1:p.Phe28Leu

Select item 122088169517.

rs1220881695 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27771784 (GRCh38)
2:27994651 (GRCh37)
Canonical SPDI:: NC_000002.12:27771783:C:G,NC_000002.12:27771783:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27771784C>G, NC_000002.12:g.27771784C>T, NC_000002.11:g.27994651C>G, NC_000002.11:g.27994651C>T, NM_004891.4:c.7C>G, NM_004891.4:c.7C>T, NM_004891.3:c.7C>G, NM_004891.3:c.7C>T, NM_145330.3:c.7C>G, NM_145330.3:c.7C>T, NM_145330.2:c.7C>G, NM_145330.2:c.7C>T, NP_004882.1:p.Leu3Val, NP_004882.1:p.Leu3Phe, NP_663303.1:p.Leu3Val, NP_663303.1:p.Leu3Phe

Select item 121317401318.

rs1213174013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 2:27772677 (GRCh38)
2:27995544 (GRCh37)
Canonical SPDI:: NC_000002.12:27772676:C:G,NC_000002.12:27772676:C:T
Gene:: MRPL33 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.27772677C>G, NC_000002.12:g.27772677C>T, NC_000002.11:g.27995544C>G, NC_000002.11:g.27995544C>T, NM_004891.4:c.26C>G, NM_004891.4:c.26C>T, NM_004891.3:c.26C>G, NM_004891.3:c.26C>T, NM_145330.3:c.26C>G, NM_145330.3:c.26C>T, NM_145330.2:c.26C>G, NM_145330.2:c.26C>T, NP_004882.1:p.Ala9Gly, NP_004882.1:p.Ala9Val, NP_663303.1:p.Ala9Gly, NP_663303.1:p.Ala9Val

Select item 118850371219.

rs1188503712 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:27779464 (GRCh38)
2:28002331 (GRCh37)
Canonical SPDI:: NC_000002.12:27779463:A:G
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.27779464A>G, NC_000002.11:g.28002331A>G, NM_004891.4:c.180A>G, NM_004891.3:c.180A>G, NM_145330.3:c.73A>G, NM_145330.2:c.73A>G, NP_663303.1:p.Lys25Glu

Select item 116445097320.

rs1164450973 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 2:27774513 (GRCh38)
2:27997380 (GRCh37)
Canonical SPDI:: NC_000002.12:27774512:T:A,NC_000002.12:27774512:T:C,NC_000002.12:27774512:T:G
Gene:: MRPL33 (Varview)
Functional Consequence:: missense_variant,stop_gained,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000031/1 (ALFA)
C=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.27774513T>A, NC_000002.12:g.27774513T>C, NC_000002.12:g.27774513T>G, NC_000002.11:g.27997380T>A, NC_000002.11:g.27997380T>C, NC_000002.11:g.27997380T>G, NM_004891.4:c.131T>A, NM_004891.4:c.131T>C, NM_004891.4:c.131T>G, NM_004891.3:c.131T>A, NM_004891.3:c.131T>C, NM_004891.3:c.131T>G, NP_004882.1:p.Leu44Ter, NP_004882.1:p.Leu44Ser, NP_004882.1:p.Leu44Trp

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