Linked Data
dbSNP Id:
rs781025559
ExAC:
13:28498395 G / T
gnomAD v2:
13-28498395-G-T
gnomAD v4:
13-27924258-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924258G>T , CM000675.2:g.27924258G>T | GRCh38 |
| NC_000013.10:g.28498395G>T , CM000675.1:g.28498395G>T | GRCh37 |
| NC_000013.9:g.27396395G>T | NCBI36 |
| NG_008183.1:g.9228G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.409G>T MANE Select | ENSP00000370421.4:p.Gly137Cys | |
| ENST00000381033.4:c.409G>T | ENSP00000370421.4:p.Gly137Cys | |
| NM_000209.3:c.409G>T | NP_000200.1:p.Gly137Cys | |
| XR_941578.1:n.3536G>T | ||
| XR_941579.1:n.2135G>T | ||
| XR_941580.1:n.1051G>T | ||
| XR_941578.2:n.3548G>T | ||
| XR_941580.2:n.1063G>T | ||
| NM_000209.4:c.409G>T MANE Select | NP_000200.1:p.Gly137Cys |