Linked Data
ClinVar Variation Id:
707988
ClinVar RCV Id:
RCV000879173
dbSNP Id:
rs143556739
ExAC:
3:120357389 G / A
gnomAD v2:
3-120357389-G-A
gnomAD v3:
3-120638542-G-A
gnomAD v4:
3-120638542-G-A
COSMIC:
COSM252538
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638542G>A , CM000665.2:g.120638542G>A | GRCh38 |
| NC_000003.11:g.120357389G>A , CM000665.1:g.120357389G>A | GRCh37 |
| NC_000003.10:g.121840079G>A | NCBI36 |
| NG_011957.1:g.48940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.919C>T MANE Select | ENSP00000283871.5:p.Arg307Cys | |
| ENST00000283871.9:c.919C>T | ENSP00000283871.5:p.Arg307Cys | |
| ENST00000470321.1:n.259C>T | ||
| ENST00000475447.2:c.307+3047C>T | ||
| ENST00000492108.5:c.285+3047C>T | ENSP00000419838.1:n.285+3047C>T | |
| ENST00000494453.1:c.339C>T | ||
| NM_000187.3:c.919C>T | NP_000178.2:p.Arg307Cys | |
| XM_005247412.1:c.694C>T | XP_005247469.1:p.Arg232Cys | |
| XM_005247413.1:c.919C>T | XP_005247470.1:p.Arg307Cys | |
| XM_011512746.1:c.879+3047C>T | XP_011511048.1:n.879+3047C>T | |
| XM_005247412.2:c.694C>T | XP_005247469.1:p.Arg232Cys | |
| XM_005247413.2:c.919C>T | XP_005247470.1:p.Arg307Cys | |
| XM_011512746.2:c.879+3047C>T | XP_011511048.1:n.879+3047C>T | |
| XM_017006277.2:c.496C>T | XP_016861766.1:p.Arg166Cys | |
| NM_000187.4:c.919C>T MANE Select | NP_000178.2:p.Arg307Cys |