Linked Data
ClinVar Variation Id:
102468
dbSNP Id:
rs62516150
ExAC:
12:103238167 C / A
gnomAD v2:
12-103238167-C-A
gnomAD v4:
12-102844389-C-A
ERepo:
CA229269/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102844389C>A , CM000674.2:g.102844389C>A | GRCh38 |
| NC_000012.11:g.103238167C>A , CM000674.1:g.103238167C>A | GRCh37 |
| NC_000012.10:g.101762297C>A | NCBI36 |
| NG_008690.1:g.78214G>T | |
| NG_008690.2:g.119022G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1012G>T MANE Select | ENSP00000448059.1:p.Asp338Tyr | |
| ENST00000307000.7:c.997G>T | ENSP00000303500.2:p.Asp333Tyr | |
| ENST00000549247.6:n.771G>T | ||
| ENST00000551114.2:n.674G>T | ||
| ENST00000553106.5:c.1012G>T | ENSP00000448059.1:p.Asp338Tyr | |
| ENST00000635477.1:c.116G>T | ||
| ENST00000635528.1:n.527G>T | ||
| NM_000277.1:c.1012G>T | NP_000268.1:p.Asp338Tyr | |
| XM_011538422.1:c.955G>T | XP_011536724.1:p.Asp319Tyr | |
| NM_000277.2:c.1012G>T | NP_000268.1:p.Asp338Tyr | |
| NM_001354304.1:c.1012G>T | NP_001341233.1:p.Asp338Tyr | |
| NM_000277.3:c.1012G>T MANE Select | NP_000268.1:p.Asp338Tyr | |
| NM_001354304.2:c.1012G>T | NP_001341233.1:p.Asp338Tyr |