Linked Data
ClinVar Variation Id:
214241
dbSNP Id:
rs757251412
ExAC:
16:57485062 C / T
gnomAD v2:
16-57485062-C-T
gnomAD v3:
16-57451150-C-T
gnomAD v4:
16-57451150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.57451150C>T , CM000678.2:g.57451150C>T | GRCh38 |
| NC_000016.9:g.57485062C>T , CM000678.1:g.57485062C>T | GRCh37 |
| NC_000016.8:g.56042563C>T | NCBI36 |
| NG_027696.1:g.8726C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262507.11:c.184C>T MANE Select | ENSP00000262507.5:p.His62Tyr | |
| ENST00000262507.10:c.184C>T | ENSP00000262507.5:p.His62Tyr | |
| ENST00000562426.5:n.187C>T | ||
| ENST00000562734.5:n.208C>T | ||
| ENST00000563166.1:c.130C>T | ENSP00000455495.1:p.His44Tyr | |
| ENST00000563391.1:c.-225C>T | ENSP00000455516.1:n.-225C>T | |
| ENST00000564115.5:c.184C>T | ENSP00000455256.1:p.His62Tyr | |
| ENST00000564655.5:c.196C>T | ENSP00000454992.1:p.His66Tyr | |
| ENST00000565964.5:c.184C>T | ENSP00000458023.1:p.His62Tyr | |
| ENST00000566388.5:n.265C>T | ||
| ENST00000567072.5:c.184C>T | ENSP00000456728.1:p.His62Tyr | |
| ENST00000567384.1:n.366C>T | ||
| ENST00000567480.1:n.114C>T | ||
| ENST00000567933.5:c.184C>T | ENSP00000456174.1:p.His62Tyr | |
| ENST00000568790.5:n.208C>T | ||
| NM_020312.3:c.184C>T | NP_064708.1:p.His62Tyr | |
| NM_020312.4:c.184C>T MANE Select | NP_064708.1:p.His62Tyr |