Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31001540A>G , CM000678.2:g.31001540A>G | GRCh38 |
| NC_000016.9:g.31012861A>G , CM000678.1:g.31012861A>G | GRCh37 |
| NC_000016.8:g.30920362A>G | NCBI36 |
| NG_041829.1:g.13969T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_052874.5:c.94T>C MANE Select | NP_443106.1:p.Phe32Leu |
| ENST00000215095.11:c.94T>C MANE Select | ENSP00000215095.5:p.Phe32Leu |
| NM_052874.4:c.94T>C | NP_443106.1:p.Phe32Leu |
| ENST00000215095.9:c.94T>C | ENSP00000215095.5:p.Phe32Leu |
| ENST00000561836.1:n.200T>C | |
| ENST00000565419.1:c.94T>C | ENSP00000455899.1:p.Phe32Leu |
| ENST00000565419.2:c.94T>C | ENSP00000455899.1:p.Phe32Leu |
| XM_017022893.1:c.76T>C | XP_016878382.1:p.Phe26Leu |