Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951891C= , CM000670.2:g.19951891C= | GRCh38 |
| NC_000008.10:g.19809402C= , CM000670.1:g.19809402C= | GRCh37 |
| NC_000008.9:g.19853682C= | NCBI36 |
| NG_008855.1:g.17821C= | |
| NG_008855.2:g.55175C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.372C= MANE Select | ENSP00000497642.1:p.Ser124= | |
| ENST00000311322.8:c.372C= | ENSP00000309757.6:p.Ser124= | |
| ENST00000520959.5:c.144C= | ENSP00000428496.1:p.Ser48= | |
| ENST00000524029.5:c.372C= | ENSP00000428237.1:p.Ser124= | |
| NM_000237.2:c.372C= | NP_000228.1:p.Ser124= | |
| NM_000237.3:c.372C= MANE Select | NP_000228.1:p.Ser124= |