Linked Data
dbSNP Id:
rs756016748
ExAC:
9:130616604 C / T
gnomAD v2:
9-130616604-C-T
gnomAD v3:
9-127854325-C-T
gnomAD v4:
9-127854325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854325C>T , CM000671.2:g.127854325C>T | GRCh38 |
| NC_000009.11:g.130616604C>T , CM000671.1:g.130616604C>T | GRCh37 |
| NC_000009.10:g.129656425C>T | NCBI36 |
| NG_009551.1:g.5444G>A , LRG_589:g.5444G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373203.9:c.31G>A MANE Select | ENSP00000362299.4:p.Ala11Thr | |
| ENST00000344849.4:c.31G>A | ENSP00000341917.3:p.Ala11Thr | |
| ENST00000373203.8:c.31G>A | ENSP00000362299.4:p.Ala11Thr | |
| NM_000118.3:c.31G>A , LRG_589t1:c.31G>A | NP_000109.1:p.Ala11Thr | |
| NM_001114753.2:c.31G>A , LRG_589t2:c.31G>A | NP_001108225.1:p.Ala11Thr | |
| NM_001114753.3:c.31G>A MANE Select | NP_001108225.1:p.Ala11Thr |