Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.173371346C>T , CM000666.2:g.173371346C>T | GRCh38 |
| NC_000004.11:g.174292497C>T , CM000666.1:g.174292497C>T | GRCh37 |
| NC_000004.10:g.174529072C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003864.4:c.164C>T MANE Select | NP_003855.1:p.Pro55Leu |
| ENST00000296504.4:c.164C>T MANE Select | ENSP00000296504.3:p.Pro55Leu |
| NM_003864.3:c.164C>T | NP_003855.1:p.Pro55Leu |
| ENST00000296504.3:c.164C>T | ENSP00000296504.3:p.Pro55Leu |