Linked Data
dbSNP Id:
rs1416947929
gnomAD v2:
19-47207621-G-A
gnomAD v4:
19-46704364-G-A
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.46704364G>A , CM000681.2:g.46704364G>A | GRCh38 |
| NC_000019.9:g.47207621G>A , CM000681.1:g.47207621G>A | GRCh37 |
| NC_000019.8:g.51899461G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291281.9:c.694C>T MANE Select | ENSP00000291281.3:p.Arg232Cys | |
| ENST00000291281.8:c.694C>T | ENSP00000291281.3:p.Arg232Cys | |
| ENST00000433867.5:c.694C>T | ENSP00000393978.1:p.Arg232Cys | |
| ENST00000595515.5:c.694C>T | ENSP00000470804.1:p.Arg232Cys | |
| ENST00000597641.1:c.429C>T | ENSP00000469064.1:n.429C>T | |
| ENST00000600194.5:c.223C>T | ENSP00000472744.1:p.Arg75Cys | |
| ENST00000601605.5:c.41-3252C>T | ENSP00000470442.1:n.41-3252C>T | |
| ENST00000601806.5:c.223C>T | ENSP00000469106.1:p.Arg75Cys | |
| NM_001079880.1:c.694C>T | NP_001073349.1:p.Arg232Cys | |
| NM_001079881.1:c.694C>T | NP_001073350.1:p.Arg232Cys | |
| NM_001079882.1:c.223C>T | NP_001073351.1:p.Arg75Cys | |
| NM_016457.4:c.694C>T | NP_057541.2:p.Arg232Cys | |
| XM_005258716.2:c.223C>T | XP_005258773.2:p.Arg75Cys | |
| NM_001079880.2:c.694C>T | NP_001073349.1:p.Arg232Cys | |
| NM_001079881.2:c.694C>T | NP_001073350.1:p.Arg232Cys | |
| NM_001079882.2:c.223C>T | NP_001073351.1:p.Arg75Cys | |
| NM_016457.5:c.694C>T MANE Select | NP_057541.2:p.Arg232Cys |