Linked Data
dbSNP Id:
rs765409769
gnomAD v2:
19-39734300-C-A
gnomAD v3:
19-39243660-C-A
gnomAD v4:
19-39243660-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39243660C>A , CM000681.2:g.39243660C>A | GRCh38 |
| NC_000019.9:g.39734300C>A , CM000681.1:g.39734300C>A | GRCh37 |
| NC_000019.8:g.44426140C>A | NCBI36 |
| NG_042193.1:g.6312G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613087.5:c.575G>T | ENSP00000481633.1:p.Cys192Phe | |
| ENST00000413851.3:c.563G>T MANE Select | ENSP00000409000.2:p.Cys188Phe | |
| ENST00000413851.2:c.563G>T | ENSP00000409000.2:p.Cys188Phe | |
| ENST00000613087.4:c.575G>T | ENSP00000481633.1:p.Cys192Phe | |
| NM_172139.2:c.563G>T | NP_742151.2:p.Cys188Phe | |
| XM_005258765.3:c.575G>T | XP_005258822.1:p.Cys192Phe | |
| XM_011526757.1:c.575G>T | XP_011525059.1:p.Cys192Phe | |
| NM_001346937.1:c.575G>T | NP_001333866.1:p.Cys192Phe | |
| NM_172139.3:c.563G>T | NP_742151.2:p.Cys188Phe | |
| NM_172139.4:c.563G>T MANE Select | NP_742151.2:p.Cys188Phe | |
| NM_001346937.2:c.575G>T | NP_001333866.1:p.Cys192Phe |