Linked Data
dbSNP Id:
rs375210131
gnomAD v2:
1-17660450-T-C
gnomAD v3:
1-17333955-T-C
gnomAD v4:
1-17333955-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17333955T>C , CM000663.2:g.17333955T>C | GRCh38 |
| NC_000001.10:g.17660450T>C , CM000663.1:g.17660450T>C | GRCh37 |
| NC_000001.9:g.17533037T>C | NCBI36 |
| NG_023261.2:g.30766T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375448.4:c.286T>C MANE Select | ENSP00000364597.4:p.Tyr96His | |
| ENST00000375453.5:c.286T>C | ENSP00000364602.1:p.Tyr96His | |
| NM_012387.2:c.286T>C | NP_036519.2:p.Tyr96His | |
| XM_011541150.1:c.286T>C | XP_011539452.1:p.Tyr96His | |
| XM_011541151.1:c.286T>C | XP_011539453.1:p.Tyr96His | |
| XM_011541153.1:c.286T>C | XP_011539455.1:p.Tyr96His | |
| XM_011541154.1:c.286T>C | XP_011539456.1:p.Tyr96His | |
| XM_011541155.1:c.286T>C | XP_011539457.1:p.Tyr96His | |
| XM_011541156.1:c.286T>C | XP_011539458.1:p.Tyr96His | |
| XM_011541154.2:c.286T>C | XP_011539456.1:p.Tyr96His | |
| NM_012387.3:c.286T>C MANE Select | NP_036519.2:p.Tyr96His |