Linked Data
dbSNP Id:
rs779781632
ExAC:
Y:6740613 C / T
gnomAD v2:
Y-6740613-C-T
gnomAD v3:
Y-6872572-C-T
gnomAD v4:
Y-6872572-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.6872572C>T , CM000686.2:g.6872572C>T | GRCh38 |
| NC_000024.9:g.6740613C>T , CM000686.1:g.6740613C>T | GRCh37 |
| NC_000024.8:g.6800613C>T | NCBI36 |
| NG_008011.1:g.6456G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651267.2:c.37G>A MANE Select | ENSP00000498344.1:p.Ala13Thr | |
| ENST00000215479.10:c.37G>A | ENSP00000215479.5:p.Ala13Thr | |
| ENST00000651267.1:c.37G>A | ENSP00000498344.1:p.Ala13Thr | |
| ENST00000215479.9:c.37G>A | ENSP00000215479.5:p.Ala13Thr | |
| ENST00000383036.1:c.37G>A | ENSP00000372505.1:p.Ala13Thr | |
| NM_001143.1:c.37G>A | NP_001134.1:p.Ala13Thr | |
| XM_011531472.1:c.37G>A | XP_011529774.1:p.Ala13Thr | |
| NM_001364814.1:c.37G>A | NP_001351743.1:p.Ala13Thr | |
| NM_001143.2:c.37G>A MANE Select | NP_001134.1:p.Ala13Thr |