Linked Data
ClinVar Variation Id:
12320
dbSNP Id:
rs1042695
ExAC:
8:11421955 T / G
gnomAD v2:
8-11421955-T-G
gnomAD v3:
8-11564446-T-G
gnomAD v4:
8-11564446-T-G
PubMed:
PMID:19667185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564446T>G , CM000670.2:g.11564446T>G | GRCh38 |
| NC_000008.10:g.11421955T>G , CM000670.1:g.11421955T>G | GRCh37 |
| NC_000008.9:g.11459364T>G | NCBI36 |
| NG_023543.1:g.75435T>G | |
| NG_023543.2:g.75435T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696154.2:n.1964T>G | ||
| ENST00000696154.1:c.*1174T>G | ENSP00000512445.1:n.*1174T>G | |
| ENST00000259089.9:c.*338T>G MANE Select | ENSP00000259089.4:n.*338T>G | |
| ENST00000645242.1:c.*338T>G | ENSP00000494690.1:n.*338T>G | |
| ENST00000259089.8:c.*338T>G | ENSP00000259089.4:n.*338T>G | |
| ENST00000526097.1:n.1796T>G | ||
| ENST00000529894.1:c.*338T>G | ENSP00000433663.1:n.*338T>G | |
| NM_001715.2:c.*338T>G | NP_001706.2:n.*338T>G | |
| XM_011543824.1:c.*338T>G | XP_011542126.1:n.*338T>G | |
| XM_011543825.1:c.*338T>G | XP_011542127.1:n.*338T>G | |
| XM_011543826.1:c.*338T>G | XP_011542128.1:n.*338T>G | |
| XM_011543827.1:c.*338T>G | XP_011542129.1:n.*338T>G | |
| NM_001330465.1:c.*338T>G | NP_001317394.1:n.*338T>G | |
| XM_011543825.3:c.*338T>G | XP_011542127.1:n.*338T>G | |
| NM_001715.3:c.*338T>G MANE Select | NP_001706.2:n.*338T>G | |
| NM_001330465.2:c.*338T>G | NP_001317394.1:n.*338T>G |