Linked Data
ClinVar Variation Id:
102908
ClinVar RCV Id:
RCV000089172
dbSNP Id:
rs62642917
gnomAD v2:
12-103240699-C-A
gnomAD v4:
12-102846921-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846921C>A , CM000674.2:g.102846921C>A | GRCh38 |
| NC_000012.11:g.103240699C>A , CM000674.1:g.103240699C>A | GRCh37 |
| NC_000012.10:g.101764829C>A | NCBI36 |
| NG_008690.1:g.75682G>T | |
| NG_008690.2:g.116490G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.943G>T MANE Select | ENSP00000448059.1:p.Asp315Tyr | |
| ENST00000307000.7:c.928G>T | ENSP00000303500.2:p.Asp310Tyr | |
| ENST00000549247.6:n.702G>T | ||
| ENST00000551114.2:n.605G>T | ||
| ENST00000553106.5:c.943G>T | ENSP00000448059.1:p.Asp315Tyr | |
| ENST00000635477.1:c.74-2490G>T | ||
| ENST00000635528.1:n.458G>T | ||
| NM_000277.1:c.943G>T | NP_000268.1:p.Asp315Tyr | |
| XM_011538422.1:c.913-2490G>T | XP_011536724.1:n.913-2490G>T | |
| NM_000277.2:c.943G>T | NP_000268.1:p.Asp315Tyr | |
| NM_001354304.1:c.943G>T | NP_001341233.1:p.Asp315Tyr | |
| NM_000277.3:c.943G>T MANE Select | NP_000268.1:p.Asp315Tyr | |
| NM_001354304.2:c.943G>T | NP_001341233.1:p.Asp315Tyr |