Linked Data
ClinVar Variation Id:
17463
ClinVar RCV Id:
RCV000019015
RCV000414882
RCV000498291
RCV000626608
RCV001199071
RCV001251179
RCV001352770
RCV002276566
RCV002496411
RCV003924844
dbSNP Id:
rs121912855
ExAC:
3:48612651 G / A
gnomAD v2:
3-48612651-G-A
gnomAD v3:
3-48575218-G-A
gnomAD v4:
3-48575218-G-A
PubMed:
PMID:12787275
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48575218G>A , CM000665.2:g.48575218G>A | GRCh38 |
| NC_000003.11:g.48612651G>A , CM000665.1:g.48612651G>A | GRCh37 |
| NC_000003.10:g.48587655G>A | NCBI36 |
| NG_007065.1:g.25035C>T , LRG_286:g.25035C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000681320.1:c.6205C>T MANE Select | ENSP00000506558.1:p.Arg2069Cys | |
| ENST00000328333.12:c.6205C>T | ENSP00000332371.8:p.Arg2069Cys | |
| ENST00000487017.5:n.2122C>T | ||
| NM_000094.3:c.6205C>T , LRG_286t1:c.6205C>T | NP_000085.1:p.Arg2069Cys | |
| XM_011533336.1:c.6232C>T | XP_011531638.1:p.Arg2078Cys | |
| XM_011533337.1:c.6205C>T | XP_011531639.1:p.Arg2069Cys | |
| XM_011533338.1:c.6232C>T | XP_011531640.1:p.Arg2078Cys | |
| XM_011533339.1:c.6232C>T | XP_011531641.1:p.Arg2078Cys | |
| XM_011533340.1:c.6232C>T | XP_011531642.1:p.Arg2078Cys | |
| XM_011533341.1:c.6232C>T | XP_011531643.1:p.Arg2078Cys | |
| XM_011533342.1:c.6232C>T | XP_011531644.1:p.Arg2078Cys | |
| XR_940369.1:n.6268C>T | ||
| XR_940370.1:n.6268C>T | ||
| XR_940371.1:n.6268C>T | ||
| XR_940372.1:n.6268C>T | ||
| XR_940373.1:n.6268C>T | ||
| XR_940374.1:n.6268C>T | ||
| XR_940375.1:n.6206C>T | ||
| XM_017005688.1:c.6205C>T | XP_016861177.1:p.Arg2069Cys | |
| XM_017005689.1:c.6205C>T | XP_016861178.1:p.Arg2069Cys | |
| XM_017005690.1:c.6205C>T | XP_016861179.1:p.Arg2069Cys | |
| XM_017005691.1:c.6205C>T | XP_016861180.1:p.Arg2069Cys | |
| XM_017005692.1:c.6205C>T | XP_016861181.1:p.Arg2069Cys | |
| XR_001740003.1:n.6241C>T | ||
| XR_001740004.1:n.6241C>T | ||
| XR_001740005.1:n.6241C>T | ||
| XR_001740006.1:n.6241C>T | ||
| XR_001740007.1:n.6241C>T | ||
| XR_001740008.1:n.6241C>T | ||
| XR_001740009.1:n.6179C>T | ||
| NM_000094.4:c.6205C>T MANE Select | NP_000085.1:p.Arg2069Cys |