Linked Data
ClinVar Variation Id:
367469
ClinVar RCV Id:
RCV000288589
dbSNP Id:
rs41277905
gnomAD v2:
9-80944838-A-G
gnomAD v3:
9-78329922-A-G
gnomAD v4:
9-78329922-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78329922A>G , CM000671.2:g.78329922A>G | GRCh38 |
| NC_000009.11:g.80944838A>G , CM000671.1:g.80944838A>G | GRCh37 |
| NC_000009.10:g.80134658A>G | NCBI36 |
| NG_012165.1:g.37780A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376588.4:c.*836A>G MANE Select | ENSP00000365773.3:n.*836A>G | |
| ENST00000376588.3:c.*836A>G | ENSP00000365773.3:n.*836A>G | |
| NM_021154.4:c.*836A>G | NP_066977.1:n.*836A>G | |
| NM_058179.3:c.*836A>G | NP_478059.1:n.*836A>G | |
| NM_058179.4:c.*836A>G MANE Select | NP_478059.1:n.*836A>G | |
| NM_021154.5:c.*836A>G | NP_066977.1:n.*836A>G |