Linked Data
ClinVar Variation Id:
102545
dbSNP Id:
rs62516142
gnomAD v4:
12-102843665-C-G
ERepo:
CA229371/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843665C>G , CM000674.2:g.102843665C>G | GRCh38 |
| NC_000012.11:g.103237443C>G , CM000674.1:g.103237443C>G | GRCh37 |
| NC_000012.10:g.101761573C>G | NCBI36 |
| NG_008690.1:g.78938G>C | |
| NG_008690.2:g.119746G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1180G>C MANE Select | ENSP00000448059.1:p.Asp394His | |
| ENST00000307000.7:c.1165G>C | ENSP00000303500.2:p.Asp389His | |
| ENST00000549247.6:n.939G>C | ||
| ENST00000551114.2:n.842G>C | ||
| ENST00000553106.5:c.1180G>C | ENSP00000448059.1:p.Asp394His | |
| ENST00000635477.1:c.284G>C | ||
| ENST00000635528.1:n.695G>C | ||
| NM_000277.1:c.1180G>C | NP_000268.1:p.Asp394His | |
| XM_011538422.1:c.1123G>C | XP_011536724.1:p.Asp375His | |
| NM_000277.2:c.1180G>C | NP_000268.1:p.Asp394His | |
| NM_001354304.1:c.1180G>C | NP_001341233.1:p.Asp394His | |
| NM_000277.3:c.1180G>C MANE Select | NP_000268.1:p.Asp394His | |
| NM_001354304.2:c.1180G>C | NP_001341233.1:p.Asp394His |