Linked Data
ClinVar Variation Id:
1447923
ClinVar RCV Id:
RCV001979998
dbSNP Id:
rs1380215532
gnomAD v3:
15-89328768-A-G
gnomAD v4:
15-89328768-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328768A>G , CM000677.2:g.89328768A>G | GRCh38 |
| NC_000015.9:g.89871999A>G , CM000677.1:g.89871999A>G | GRCh37 |
| NC_000015.8:g.87673003A>G | NCBI36 |
| NG_008218.1:g.11028T>C | |
| NG_008218.2:g.11028T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.1087T>C | ENSP00000516154.1:p.Tyr363His | |
| ENST00000268124.11:c.1087T>C MANE Select | ENSP00000268124.5:p.Tyr363His | |
| ENST00000530292.3:c.688T>C | ENSP00000432885.2:p.Tyr230His | |
| ENST00000635986.2:c.1087T>C | ENSP00000490653.2:p.Tyr363His | |
| ENST00000636774.1:c.1087T>C | ENSP00000489799.1:p.Tyr363His | |
| ENST00000637264.1:c.159T>C | ||
| ENST00000666746.1:c.744T>C | ||
| ENST00000672071.1:n.1285T>C | ||
| ENST00000672923.2:n.84T>C | ||
| ENST00000268124.9:c.1087T>C | ENSP00000268124.5:p.Tyr363His | |
| ENST00000442287.6:c.1087T>C | ENSP00000399851.2:p.Tyr363His | |
| ENST00000631044.2:c.*470T>C | ENSP00000486730.1:n.*470T>C | |
| NM_001126131.1:c.1087T>C | NP_001119603.1:p.Tyr363His | |
| NM_002693.2:c.1087T>C | NP_002684.1:p.Tyr363His | |
| NM_001126131.2:c.1087T>C | NP_001119603.1:p.Tyr363His | |
| NM_002693.3:c.1087T>C MANE Select | NP_002684.1:p.Tyr363His |