Linked Data
ClinVar Variation Id:
303327
dbSNP Id:
rs149782549
ExAC:
11:124792656 G / A
gnomAD v2:
11-124792656-G-A
gnomAD v3:
11-124922760-G-A
gnomAD v4:
11-124922760-G-A
PubMed:
PMID:21419380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124922760G>A , CM000673.2:g.124922760G>A | GRCh38 |
| NC_000011.9:g.124792656G>A , CM000673.1:g.124792656G>A | GRCh37 |
| NC_000011.8:g.124297866G>A | NCBI36 |
| NG_029603.1:g.18653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.862C>T | ENSP00000515485.1:p.Arg288Cys | |
| ENST00000298251.5:c.862C>T MANE Select | ENSP00000298251.4:p.Arg288Cys | |
| ENST00000298251.4:c.862C>T | ENSP00000298251.4:p.Arg288Cys | |
| NM_152722.4:c.862C>T | NP_689935.2:p.Arg288Cys | |
| XM_005271449.1:c.862C>T | XP_005271506.1:p.Arg288Cys | |
| XM_006718786.1:c.883C>T | XP_006718849.1:p.Arg295Cys | |
| XM_011542669.1:c.883C>T | XP_011540971.1:p.Arg295Cys | |
| XM_005271449.2:c.862C>T | XP_005271506.1:p.Arg288Cys | |
| XM_017017361.1:c.862C>T | XP_016872850.1:p.Arg288Cys | |
| XR_001748429.2:n.325-20640G>A | ||
| NM_152722.5:c.862C>T MANE Select | NP_689935.2:p.Arg288Cys |