Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.45149298G>C , CM000679.2:g.45149298G>C | GRCh38 |
| NC_000017.10:g.43226665G>C , CM000679.1:g.43226665G>C | GRCh37 |
| NC_000017.9:g.40582448G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332499.4:c.108G>C MANE Select | ENSP00000328773.3:p.Ala36= | |
| ENST00000332499.3:c.108G>C | ENSP00000328773.2:p.Ala36= | |
| NM_006460.2:c.108G>C | NP_006451.1:p.Ala36= | |
| NM_006460.3:c.108G>C MANE Select | NP_006451.1:p.Ala36= |