Linked Data
ClinVar Variation Id:
102639
dbSNP Id:
rs62514902
ExAC:
12:103288615 C / A
gnomAD v2:
12-103288615-C-A
gnomAD v3:
12-102894837-C-A
gnomAD v4:
12-102894837-C-A
ERepo:
CA229500/MONDO:0009861/006
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894837C>A , CM000674.2:g.102894837C>A | GRCh38 |
| NC_000012.11:g.103288615C>A , CM000674.1:g.103288615C>A | GRCh37 |
| NC_000012.10:g.101812745C>A | NCBI36 |
| NG_008690.1:g.27766G>T | |
| NG_008690.2:g.68574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.250G>T MANE Select | ENSP00000448059.1:p.Asp84Tyr | |
| ENST00000307000.7:c.235G>T | ENSP00000303500.2:p.Asp79Tyr | |
| ENST00000546844.1:c.250G>T | ENSP00000446658.1:p.Asp84Tyr | |
| ENST00000548677.2:n.337G>T | ||
| ENST00000548928.1:n.172G>T | ||
| ENST00000549111.5:n.346G>T | ||
| ENST00000550978.6:c.234G>T | ||
| ENST00000551337.5:c.250G>T | ENSP00000447620.1:p.Asp84Tyr | |
| ENST00000551988.5:n.339G>T | ||
| ENST00000553106.5:c.250G>T | ENSP00000448059.1:p.Asp84Tyr | |
| NM_000277.1:c.250G>T | NP_000268.1:p.Asp84Tyr | |
| XM_011538422.1:c.250G>T | XP_011536724.1:p.Asp84Tyr | |
| NM_000277.2:c.250G>T | NP_000268.1:p.Asp84Tyr | |
| NM_001354304.1:c.250G>T | NP_001341233.1:p.Asp84Tyr | |
| XM_017019370.2:c.250G>T | XP_016874859.1:p.Asp84Tyr | |
| NM_000277.3:c.250G>T MANE Select | NP_000268.1:p.Asp84Tyr | |
| NM_001354304.2:c.250G>T | NP_001341233.1:p.Asp84Tyr |