Linked Data
dbSNP Id:
rs745817473
ExAC:
17:39023402 G / A
gnomAD v2:
17-39023402-G-A
gnomAD v4:
17-40867150-G-A
COSMIC:
COSM2839609
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40867150G>A , CM000679.2:g.40867150G>A | GRCh38 |
| NC_000017.10:g.39023402G>A , CM000679.1:g.39023402G>A | GRCh37 |
| NC_000017.9:g.36276928G>A | NCBI36 |
| NG_008077.1:g.5061C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.37C>T MANE Select | ENSP00000251643.4:p.Arg13Cys | |
| ENST00000647902.1:c.37C>T | ENSP00000497770.1:p.Arg13Cys | |
| ENST00000251643.4:c.37C>T | ENSP00000251643.4:p.Arg13Cys | |
| NM_000223.3:c.37C>T | NP_000214.1:p.Arg13Cys | |
| XR_934754.1:n.1500+16290G>A | ||
| XR_934754.2:n.2008+16290G>A | ||
| NM_000223.4:c.37C>T MANE Select | NP_000214.1:p.Arg13Cys |