Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6716337C>T , CM000666.2:g.6716337C>T | GRCh38 |
| NC_000004.11:g.6718064C>T , CM000666.1:g.6718064C>T | GRCh37 |
| NC_000004.10:g.6768965C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018366.3:c.128C>T MANE Select | NP_060836.1:p.Pro43Leu |
| ENST00000320776.5:c.128C>T MANE Select | ENSP00000318128.3:p.Pro43Leu |
| NM_018366.2:c.128C>T | NP_060836.1:p.Pro43Leu |
| ENST00000320776.4:c.128C>T | ENSP00000318128.3:p.Pro43Leu |