Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100650045G>A , CM000669.2:g.100650045G>A | GRCh38 |
| NC_000007.13:g.100247668G>A , CM000669.1:g.100247668G>A | GRCh37 |
| NC_000007.12:g.100085604G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_016188.5:c.460C>T MANE Select | NP_057272.1:p.Leu154Phe |
| ENST00000160382.10:c.460C>T MANE Select | ENSP00000160382.5:p.Leu154Phe |
| NM_016188.4:c.460C>T | NP_057272.1:p.Leu154Phe |
| NR_134539.1:n.567C>T | |
| NR_134539.2:n.554C>T | |
| ENST00000160382.9:c.460C>T | ENSP00000160382.5:p.Leu154Phe |
| ENST00000485601.5:n.541C>T | |
| ENST00000487225.5:n.688C>T | |
| ENST00000489904.1:n.225C>T | |
| XR_927476.1:n.567C>T |