Linked Data
ClinVar Variation Id:
13500
dbSNP Id:
rs121918048
gnomAD v4:
15-89320953-G-A
PubMed:
PMID:14745080
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320953G>A , CM000677.2:g.89320953G>A | GRCh38 |
| NC_000015.9:g.89864184G>A , CM000677.1:g.89864184G>A | GRCh37 |
| NC_000015.8:g.87665188G>A | NCBI36 |
| NG_008218.1:g.18843C>T | |
| NG_008218.2:g.18843C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2794C>T | ENSP00000516154.1:p.His932Tyr | |
| ENST00000268124.11:c.2794C>T MANE Select | ENSP00000268124.5:p.His932Tyr | |
| ENST00000530292.3:c.2395C>T | ENSP00000432885.2:p.His799Tyr | |
| ENST00000635986.2:c.2794C>T | ENSP00000490653.2:p.His932Tyr | |
| ENST00000636774.1:c.*1361C>T | ENSP00000489799.1:n.*1361C>T | |
| ENST00000637238.1:c.1603C>T | ENSP00000490756.1:n.1603C>T | |
| ENST00000637264.1:c.1866C>T | ||
| ENST00000666746.1:c.2371C>T | ||
| ENST00000670281.1:c.800+1009C>T | ENSP00000499709.1:n.800+1009C>T | |
| ENST00000672071.1:n.2992C>T | ||
| ENST00000672923.2:n.2736C>T | ||
| ENST00000268124.9:c.2794C>T | ENSP00000268124.5:p.His932Tyr | |
| ENST00000442287.6:c.2794C>T | ENSP00000399851.2:p.His932Tyr | |
| ENST00000528881.2:c.391C>T | ||
| ENST00000530715.5:c.186-84C>T | ENSP00000431395.1:n.186-84C>T | |
| ENST00000631044.2:c.*2218C>T | ENSP00000486730.1:n.*2218C>T | |
| NM_001126131.1:c.2794C>T | NP_001119603.1:p.His932Tyr | |
| NM_002693.2:c.2794C>T | NP_002684.1:p.His932Tyr | |
| NM_001126131.2:c.2794C>T | NP_001119603.1:p.His932Tyr | |
| NM_002693.3:c.2794C>T MANE Select | NP_002684.1:p.His932Tyr |