Linked Data
ClinVar Variation Id:
703089
dbSNP Id:
rs149595475
ExAC:
12:103237462 G / A
gnomAD v2:
12-103237462-G-A
gnomAD v3:
12-102843684-G-A
gnomAD v4:
12-102843684-G-A
ERepo:
CA6748733/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843684G>A , CM000674.2:g.102843684G>A | GRCh38 |
| NC_000012.11:g.103237462G>A , CM000674.1:g.103237462G>A | GRCh37 |
| NC_000012.10:g.101761592G>A | NCBI36 |
| NG_008690.1:g.78919C>T | |
| NG_008690.2:g.119727C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1161C>T MANE Select | ENSP00000448059.1:p.Tyr387= | |
| ENST00000307000.7:c.1146C>T | ENSP00000303500.2:p.Tyr382= | |
| ENST00000549247.6:n.920C>T | ||
| ENST00000551114.2:n.823C>T | ||
| ENST00000553106.5:c.1161C>T | ENSP00000448059.1:p.Tyr387= | |
| ENST00000635477.1:c.265C>T | ||
| ENST00000635528.1:n.676C>T | ||
| NM_000277.1:c.1161C>T | NP_000268.1:p.Tyr387= | |
| XM_011538422.1:c.1104C>T | XP_011536724.1:p.Tyr368= | |
| NM_000277.2:c.1161C>T | NP_000268.1:p.Tyr387= | |
| NM_001354304.1:c.1161C>T | NP_001341233.1:p.Tyr387= | |
| NM_000277.3:c.1161C>T MANE Select | NP_000268.1:p.Tyr387= | |
| NM_001354304.2:c.1161C>T | NP_001341233.1:p.Tyr387= |