Linked Data
dbSNP Id:
rs1334203728
gnomAD v2:
13-47466612-C-T
gnomAD v3:
13-46892477-C-T
gnomAD v4:
13-46892477-C-T
COSMIC:
COSM469475
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46892477C>T , CM000675.2:g.46892477C>T | GRCh38 |
| NC_000013.10:g.47466612C>T , CM000675.1:g.47466612C>T | GRCh37 |
| NC_000013.9:g.46364613C>T | NCBI36 |
| NG_013011.1:g.9558G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542664.4:c.526G>A MANE Select | ENSP00000437737.1:p.Ala176Thr | |
| ENST00000543956.5:c.37G>A | ENSP00000441861.2:p.Ala13Thr | |
| ENST00000378688.8:c.526G>A | ENSP00000367959.3:p.Ala176Thr | |
| ENST00000542664.3:c.526G>A | ENSP00000437737.1:p.Ala176Thr | |
| ENST00000543956.4:c.274G>A | ENSP00000441861.1:p.Ala92Thr | |
| NM_000621.4:c.526G>A | NP_000612.1:p.Ala176Thr | |
| NM_001165947.2:c.274G>A | NP_001159419.1:p.Ala92Thr | |
| NM_000621.5:c.526G>A MANE Select | NP_000612.1:p.Ala176Thr | |
| NM_001165947.5:c.37G>A | NP_001159419.2:p.Ala13Thr | |
| NM_001378924.1:c.526G>A | NP_001365853.1:p.Ala176Thr |