Linked Data
ClinVar Variation Id:
1392286
ClinVar RCV Id:
RCV001911219
dbSNP Id:
rs1470138488
gnomAD v3:
15-89323475-A-G
gnomAD v4:
15-89323475-A-G
COSMIC:
COSM5457685
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323475A>G , CM000677.2:g.89323475A>G | GRCh38 |
| NC_000015.9:g.89866706A>G , CM000677.1:g.89866706A>G | GRCh37 |
| NC_000015.8:g.87667710A>G | NCBI36 |
| NG_008218.1:g.16321T>C | |
| NG_008218.2:g.16321T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2194T>C | ENSP00000516154.1:p.Tyr732His | |
| ENST00000268124.11:c.2194T>C MANE Select | ENSP00000268124.5:p.Tyr732His | |
| ENST00000530292.3:c.1795T>C | ENSP00000432885.2:p.Tyr599His | |
| ENST00000635986.2:c.2194T>C | ENSP00000490653.2:p.Tyr732His | |
| ENST00000636774.1:c.*761T>C | ENSP00000489799.1:n.*761T>C | |
| ENST00000637238.1:c.891T>C | ENSP00000490756.1:n.891T>C | |
| ENST00000637264.1:c.1266T>C | ||
| ENST00000666746.1:c.1771T>C | ||
| ENST00000670281.1:c.514T>C | ENSP00000499709.1:p.Tyr172His | |
| ENST00000672071.1:n.2392T>C | ||
| ENST00000672923.2:n.2297T>C | ||
| ENST00000268124.9:c.2194T>C | ENSP00000268124.5:p.Tyr732His | |
| ENST00000442287.6:c.2194T>C | ENSP00000399851.2:p.Tyr732His | |
| ENST00000526314.2:c.539+340T>C | ||
| ENST00000526398.1:c.343T>C | ||
| ENST00000532584.5:n.396T>C | ||
| ENST00000631044.2:c.*1618T>C | ENSP00000486730.1:n.*1618T>C | |
| NM_001126131.1:c.2194T>C | NP_001119603.1:p.Tyr732His | |
| NM_002693.2:c.2194T>C | NP_002684.1:p.Tyr732His | |
| NM_001126131.2:c.2194T>C | NP_001119603.1:p.Tyr732His | |
| NM_002693.3:c.2194T>C MANE Select | NP_002684.1:p.Tyr732His |