Linked Data
dbSNP Id:
rs1168952822
gnomAD v2:
9-130577481-G-A
gnomAD v3:
9-127815202-G-A
gnomAD v4:
9-127815202-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815202G>A , CM000671.2:g.127815202G>A | GRCh38 |
| NC_000009.11:g.130577481G>A , CM000671.1:g.130577481G>A | GRCh37 |
| NC_000009.10:g.129617302G>A | NCBI36 |
| NG_009551.1:g.44567C>T , LRG_589:g.44567C>T | |
| NG_023245.1:g.17328G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*480C>T | ENSP00000479015.1:n.*480C>T | |
| ENST00000373203.9:c.*480C>T MANE Select | ENSP00000362299.4:n.*480C>T | |
| ENST00000344849.4:c.*715C>T | ENSP00000341917.3:n.*715C>T | |
| ENST00000373203.8:c.*480C>T | ENSP00000362299.4:n.*480C>T | |
| ENST00000480266.5:c.*480C>T | ENSP00000479015.1:n.*480C>T | |
| NM_000118.3:c.*715C>T , LRG_589t1:c.*715C>T | NP_000109.1:n.*715C>T | |
| NM_001114753.2:c.*480C>T , LRG_589t2:c.*480C>T | NP_001108225.1:n.*480C>T | |
| NM_001278138.1:c.*480C>T | NP_001265067.1:n.*480C>T | |
| NM_001114753.3:c.*480C>T MANE Select | NP_001108225.1:n.*480C>T | |
| NM_001278138.2:c.*480C>T | NP_001265067.1:n.*480C>T |