Linked Data
ClinVar Variation Id:
1695265
ClinVar RCV Id:
RCV002263515
dbSNP Id:
rs549011956
gnomAD v2:
9-130577530-A-C
gnomAD v3:
9-127815251-A-C
gnomAD v4:
9-127815251-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815251A>C , CM000671.2:g.127815251A>C | GRCh38 |
| NC_000009.11:g.130577530A>C , CM000671.1:g.130577530A>C | GRCh37 |
| NC_000009.10:g.129617351A>C | NCBI36 |
| NG_009551.1:g.44518T>G , LRG_589:g.44518T>G | |
| NG_023245.1:g.17377A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*431T>G | ENSP00000479015.1:n.*431T>G | |
| ENST00000373203.9:c.*431T>G MANE Select | ENSP00000362299.4:n.*431T>G | |
| ENST00000344849.4:c.*666T>G | ENSP00000341917.3:n.*666T>G | |
| ENST00000373203.8:c.*431T>G | ENSP00000362299.4:n.*431T>G | |
| ENST00000480266.5:c.*431T>G | ENSP00000479015.1:n.*431T>G | |
| NM_000118.3:c.*666T>G , LRG_589t1:c.*666T>G | NP_000109.1:n.*666T>G | |
| NM_001114753.2:c.*431T>G , LRG_589t2:c.*431T>G | NP_001108225.1:n.*431T>G | |
| NM_001278138.1:c.*431T>G | NP_001265067.1:n.*431T>G | |
| NM_001114753.3:c.*431T>G MANE Select | NP_001108225.1:n.*431T>G | |
| NM_001278138.2:c.*431T>G | NP_001265067.1:n.*431T>G |