Linked Data
ClinVar Variation Id:
102921
dbSNP Id:
rs62508573
gnomAD v2:
12-103238204-G-C
gnomAD v4:
12-102844426-G-C
ERepo:
CA229885/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844426G>C , CM000674.2:g.102844426G>C | GRCh38 |
| NC_000012.11:g.103238204G>C , CM000674.1:g.103238204G>C | GRCh37 |
| NC_000012.10:g.101762334G>C | NCBI36 |
| NG_008690.1:g.78177C>G | |
| NG_008690.2:g.118985C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.975C>G MANE Select | ENSP00000448059.1:p.Tyr325Ter | |
| ENST00000307000.7:c.960C>G | ENSP00000303500.2:p.Tyr320Ter | |
| ENST00000549247.6:n.734C>G | ||
| ENST00000551114.2:n.637C>G | ||
| ENST00000553106.5:c.975C>G | ENSP00000448059.1:p.Tyr325Ter | |
| ENST00000635477.1:c.79C>G | ||
| ENST00000635528.1:n.490C>G | ||
| NM_000277.1:c.975C>G | NP_000268.1:p.Tyr325Ter | |
| XM_011538422.1:c.918C>G | XP_011536724.1:p.Tyr306Ter | |
| NM_000277.2:c.975C>G | NP_000268.1:p.Tyr325Ter | |
| NM_001354304.1:c.975C>G | NP_001341233.1:p.Tyr325Ter | |
| NM_000277.3:c.975C>G MANE Select | NP_000268.1:p.Tyr325Ter | |
| NM_001354304.2:c.975C>G | NP_001341233.1:p.Tyr325Ter |