Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1986019C>T , CM000678.2:g.1986019C>T | GRCh38 |
| NC_000016.9:g.2036020C>T , CM000678.1:g.2036020C>T | GRCh37 |
| NC_000016.8:g.1976021C>T | NCBI36 |
| NG_016288.1:g.6871C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.384C>T | ENSP00000455885.1:p.Ser128= | |
| ENST00000248114.7:c.609C>T MANE Select | ENSP00000248114.6:p.Ser203= | |
| ENST00000248114.6:c.609C>T | ENSP00000248114.6:p.Ser203= | |
| ENST00000565658.1:n.766C>T | ||
| ENST00000567719.1:c.384C>T | ENSP00000455885.1:p.Ser128= | |
| ENST00000569451.1:c.*82C>T | ENSP00000456432.1:n.*82C>T | |
| NM_005262.2:c.609C>T | NP_005253.3:p.Ser203= | |
| NM_005262.3:c.609C>T MANE Select | NP_005253.3:p.Ser203= |