Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118932982A>G , CM000670.2:g.118932982A>G | GRCh38 |
| NC_000008.10:g.119945221A>G , CM000670.1:g.119945221A>G | GRCh37 |
| NC_000008.9:g.120014402A>G | NCBI36 |
| NG_012202.1:g.24163T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002546.4:c.349T>C MANE Select | NP_002537.3:p.Phe117Leu |
| ENST00000297350.9:c.349T>C MANE Select | ENSP00000297350.4:p.Phe117Leu |
| NM_002546.3:c.349T>C | NP_002537.3:p.Phe117Leu |
| ENST00000297350.8:c.349T>C | ENSP00000297350.4:p.Phe117Leu |
| ENST00000517352.1:c.349T>C | ENSP00000427924.1:p.Phe117Leu |