Linked Data
dbSNP Id:
rs898513736
gnomAD v2:
9-130578135-C-T
gnomAD v3:
9-127815856-C-T
gnomAD v4:
9-127815856-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815856C>T , CM000671.2:g.127815856C>T | GRCh38 |
| NC_000009.11:g.130578135C>T , CM000671.1:g.130578135C>T | GRCh37 |
| NC_000009.10:g.129617956C>T | NCBI36 |
| NG_009551.1:g.43913G>A , LRG_589:g.43913G>A | |
| NG_023245.1:g.17982C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.1307-50G>A | ENSP00000479015.1:n.1307-50G>A | |
| ENST00000373203.9:c.1853-50G>A MANE Select | ENSP00000362299.4:n.1853-50G>A | |
| ENST00000344849.4:c.*61G>A | ENSP00000341917.3:n.*61G>A | |
| ENST00000373203.8:c.1853-50G>A | ENSP00000362299.4:n.1853-50G>A | |
| ENST00000480266.5:c.1307-50G>A | ENSP00000479015.1:n.1307-50G>A | |
| NM_000118.3:c.*61G>A , LRG_589t1:c.*61G>A | NP_000109.1:n.*61G>A | |
| NM_001114753.2:c.1853-50G>A , LRG_589t2:c.1853-50G>A | NP_001108225.1:n.1853-50G>A | |
| NM_001278138.1:c.1307-50G>A | NP_001265067.1:n.1307-50G>A | |
| NM_001114753.3:c.1853-50G>A MANE Select | NP_001108225.1:n.1853-50G>A | |
| NM_001278138.2:c.1307-50G>A | NP_001265067.1:n.1307-50G>A |