Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48961770T>A , CM000679.2:g.48961770T>A | GRCh38 |
| NC_000017.10:g.47039132T>A , CM000679.1:g.47039132T>A | GRCh37 |
| NC_000017.9:g.44394131T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004123.3:c.307A>T MANE Select | NP_004114.1:p.Ser103Cys |
| ENST00000357424.2:c.307A>T MANE Select | ENSP00000350005.2:p.Ser103Cys |
| NM_004123.2:c.307A>T | NP_004114.1:p.Ser103Cys |