Linked Data
dbSNP Id:
rs973265487
gnomAD v2:
9-130602553-C-T
gnomAD v3:
9-127840274-C-T
gnomAD v4:
9-127840274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127840274C>T , CM000671.2:g.127840274C>T | GRCh38 |
| NC_000009.11:g.130602553C>T , CM000671.1:g.130602553C>T | GRCh37 |
| NC_000009.10:g.129642374C>T | NCBI36 |
| NG_009551.1:g.19495G>A , LRG_589:g.19495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.-328+2820G>A | ENSP00000479015.1:n.-328+2820G>A | |
| ENST00000373203.9:c.219+2820G>A MANE Select | ENSP00000362299.4:n.219+2820G>A | |
| ENST00000344849.4:c.219+2820G>A | ENSP00000341917.3:n.219+2820G>A | |
| ENST00000373203.8:c.219+2820G>A | ENSP00000362299.4:n.219+2820G>A | |
| ENST00000480266.5:c.-328+2820G>A | ENSP00000479015.1:n.-328+2820G>A | |
| NM_000118.3:c.219+2820G>A , LRG_589t1:c.219+2820G>A | NP_000109.1:n.219+2820G>A | |
| NM_001114753.2:c.219+2820G>A , LRG_589t2:c.219+2820G>A | NP_001108225.1:n.219+2820G>A | |
| NM_001278138.1:c.-328+2820G>A | NP_001265067.1:n.-328+2820G>A | |
| NM_001114753.3:c.219+2820G>A MANE Select | NP_001108225.1:n.219+2820G>A | |
| NM_001278138.2:c.-328+2820G>A | NP_001265067.1:n.-328+2820G>A |