Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.19935715C>T , CM000676.2:g.19935715C>T | GRCh38 |
| NC_000014.8:g.20403874C>T , CM000676.1:g.20403874C>T | GRCh37 |
| NC_000014.7:g.19473714C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001004063.3:c.49C>T MANE Select | NP_001004063.2:p.Leu17Phe |
| ENST00000641172.1:c.49C>T MANE Select | ENSP00000493193.1:p.Leu17Phe |
| NM_001004063.2:c.49C>T | NP_001004063.2:p.Leu17Phe |
| ENST00000285600.4:c.49C>T | ENSP00000285600.3:p.Leu17Phe |
| ENST00000641429.1:c.49C>T | ENSP00000493205.1:p.Leu17Phe |
| XM_011537153.1:c.49C>T | XP_011535455.1:p.Leu17Phe |
| XM_011537153.2:c.49C>T | XP_011535455.1:p.Leu17Phe |
| XR_943578.1:n.165+8010G>A | |
| XR_943579.1:n.166-3256G>A |