Linked Data
ClinVar Variation Id:
2888549
ClinVar RCV Id:
RCV003724950
dbSNP Id:
rs375507162
ExAC:
17:39780413 G / A
gnomAD v2:
17-39780413-G-A
gnomAD v3:
17-41624161-G-A
gnomAD v4:
17-41624161-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624161G>A , CM000679.2:g.41624161G>A | GRCh38 |
| NC_000017.10:g.39780413G>A , CM000679.1:g.39780413G>A | GRCh37 |
| NC_000017.9:g.37033939G>A | NCBI36 |
| NG_008625.1:g.5470C>T | |
| NG_009090.2:g.167552C>T , LRG_401:g.167552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.349C>T MANE Select | ENSP00000308452.8:p.Arg117Cys | |
| ENST00000311208.12:c.349C>T | ENSP00000308452.8:p.Arg117Cys | |
| ENST00000463128.5:c.-267C>T | ENSP00000468672.1:n.-267C>T | |
| ENST00000491673.1:n.415C>T | ||
| ENST00000493253.5:n.136C>T | ||
| ENST00000540235.5:c.100C>T | ENSP00000441751.2:p.Arg34Cys | |
| ENST00000577817.3:c.304C>T | ENSP00000467418.1:p.Arg102Cys | |
| NM_000422.2:c.349C>T | NP_000413.1:p.Arg117Cys | |
| NM_000422.3:c.349C>T MANE Select | NP_000413.1:p.Arg117Cys |