Linked Data
dbSNP Id:
rs10121110
gnomAD v2:
9-130602408-G-A
gnomAD v3:
9-127840129-G-A
gnomAD v4:
9-127840129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127840129G>A , CM000671.2:g.127840129G>A | GRCh38 |
| NC_000009.11:g.130602408G>A , CM000671.1:g.130602408G>A | GRCh37 |
| NC_000009.10:g.129642229G>A | NCBI36 |
| NG_009551.1:g.19640C>T , LRG_589:g.19640C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.-328+2965C>T | ENSP00000479015.1:n.-328+2965C>T | |
| ENST00000373203.9:c.219+2965C>T MANE Select | ENSP00000362299.4:n.219+2965C>T | |
| ENST00000344849.4:c.219+2965C>T | ENSP00000341917.3:n.219+2965C>T | |
| ENST00000373203.8:c.219+2965C>T | ENSP00000362299.4:n.219+2965C>T | |
| ENST00000480266.5:c.-328+2965C>T | ENSP00000479015.1:n.-328+2965C>T | |
| NM_000118.3:c.219+2965C>T , LRG_589t1:c.219+2965C>T | NP_000109.1:n.219+2965C>T | |
| NM_001114753.2:c.219+2965C>T , LRG_589t2:c.219+2965C>T | NP_001108225.1:n.219+2965C>T | |
| NM_001278138.1:c.-328+2965C>T | NP_001265067.1:n.-328+2965C>T | |
| NM_001114753.3:c.219+2965C>T MANE Select | NP_001108225.1:n.219+2965C>T | |
| NM_001278138.2:c.-328+2965C>T | NP_001265067.1:n.-328+2965C>T |