Linked Data
ClinVar Variation Id:
365868
ClinVar RCV Id:
RCV000321574
dbSNP Id:
rs8413
gnomAD v2:
9-139323311-T-C
gnomAD v3:
9-136428859-T-C
gnomAD v4:
9-136428859-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136428859T>C , CM000671.2:g.136428859T>C | GRCh38 |
| NC_000009.11:g.139323311T>C , CM000671.1:g.139323311T>C | GRCh37 |
| NC_000009.10:g.138443132T>C | NCBI36 |
| NG_016126.1:g.15946A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371712.4:c.*816A>G MANE Select | ENSP00000360777.3:n.*816A>G | |
| ENST00000676019.1:c.*816A>G | ENSP00000501984.1:n.*816A>G | |
| ENST00000371712.3:c.*816A>G | ENSP00000360777.3:n.*816A>G | |
| NM_019892.4:c.*816A>G | NP_063945.2:n.*816A>G | |
| XM_005266094.2:c.*816A>G | XP_005266151.1:n.*816A>G | |
| NM_001318502.1:c.*816A>G | NP_001305431.1:n.*816A>G | |
| NM_019892.5:c.*816A>G | NP_063945.2:n.*816A>G | |
| XM_017014926.1:c.*895A>G | XP_016870415.1:n.*895A>G | |
| NM_019892.6:c.*816A>G MANE Select | NP_063945.2:n.*816A>G | |
| NM_001318502.2:c.*816A>G | NP_001305431.1:n.*816A>G |