Linked Data
ClinVar Variation Id:
193643
ClinVar RCV Id:
RCV000173762
RCV000538134
RCV000710183
RCV000768055
RCV001263354
RCV002313026
RCV003985737
dbSNP Id:
rs147407423
ExAC:
15:89868793 G / A
gnomAD v2:
15-89868793-G-A
gnomAD v3:
15-89325562-G-A
gnomAD v4:
15-89325562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89325562G>A , CM000677.2:g.89325562G>A | GRCh38 |
| NC_000015.9:g.89868793G>A , CM000677.1:g.89868793G>A | GRCh37 |
| NC_000015.8:g.87669797G>A | NCBI36 |
| NG_008218.1:g.14234C>T | |
| NG_008218.2:g.14234C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1837C>T | ENSP00000516154.1:p.His613Tyr | |
| ENST00000268124.11:c.1837C>T MANE Select | ENSP00000268124.5:p.His613Tyr | |
| ENST00000530292.3:c.1438C>T | ENSP00000432885.2:p.His480Tyr | |
| ENST00000635986.2:c.1837C>T | ENSP00000490653.2:p.His613Tyr | |
| ENST00000636774.1:c.*404C>T | ENSP00000489799.1:n.*404C>T | |
| ENST00000637238.1:c.574C>T | ENSP00000490756.1:p.His192Tyr | |
| ENST00000637264.1:c.909C>T | ||
| ENST00000666746.1:c.1414C>T | ||
| ENST00000670281.1:c.157C>T | ENSP00000499709.1:p.His53Tyr | |
| ENST00000672071.1:n.2035C>T | ||
| ENST00000672923.2:n.1940C>T | ||
| ENST00000268124.9:c.1837C>T | ENSP00000268124.5:p.His613Tyr | |
| ENST00000442287.6:c.1837C>T | ENSP00000399851.2:p.His613Tyr | |
| ENST00000526314.2:c.219C>T | ||
| ENST00000526398.1:c.26C>T | ||
| ENST00000532584.5:n.39C>T | ||
| ENST00000631044.2:c.*1220C>T | ENSP00000486730.1:n.*1220C>T | |
| NM_001126131.1:c.1837C>T | NP_001119603.1:p.His613Tyr | |
| NM_002693.2:c.1837C>T | NP_002684.1:p.His613Tyr | |
| NM_001126131.2:c.1837C>T | NP_001119603.1:p.His613Tyr | |
| NM_002693.3:c.1837C>T MANE Select | NP_002684.1:p.His613Tyr |