Linked Data
ClinVar Variation Id:
30872
dbSNP Id:
rs387907040
ExAC:
16:74761188 G / A
gnomAD v2:
16-74761188-G-A
gnomAD v3:
16-74727290-G-A
gnomAD v4:
16-74727290-G-A
COSMIC:
COSM6002069
PubMed:
PMID:20853438
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74727290G>A , CM000678.2:g.74727290G>A | GRCh38 |
| NC_000016.9:g.74761188G>A , CM000678.1:g.74761188G>A | GRCh37 |
| NC_000016.8:g.73318689G>A | NCBI36 |
| NG_017070.1:g.52542C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.460C>T MANE Select | ENSP00000219368.3:p.Arg154Cys | |
| ENST00000219368.7:c.460C>T | ENSP00000219368.3:p.Arg154Cys | |
| ENST00000567683.5:c.364-8130C>T | ENSP00000455126.1:n.364-8130C>T | |
| ENST00000569949.1:c.262C>T | ENSP00000464576.1:p.Arg88Cys | |
| NM_024306.4:c.460C>T | NP_077282.3:p.Arg154Cys | |
| XM_011523317.1:c.460C>T | XP_011521619.1:p.Arg154Cys | |
| XM_011523318.1:c.460C>T | XP_011521620.1:p.Arg154Cys | |
| XM_011523319.1:c.220C>T | XP_011521621.1:p.Arg74Cys | |
| XM_011523317.3:c.460C>T | XP_011521619.1:p.Arg154Cys | |
| XM_011523319.2:c.220C>T | XP_011521621.1:p.Arg74Cys | |
| NM_024306.5:c.460C>T MANE Select | NP_077282.3:p.Arg154Cys |