Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67053896A>G , CM000663.2:g.67053896A>G | GRCh38 |
| NC_000001.10:g.67519579A>G , CM000663.1:g.67519579A>G | GRCh37 |
| NC_000001.9:g.67292167A>G | NCBI36 |
| NG_012933.1:g.5502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.118T>C MANE Select | ENSP00000235345.5:p.Phe40Leu | |
| ENST00000235345.5:c.118T>C | ENSP00000235345.5:p.Phe40Leu | |
| NM_015139.2:c.118T>C | NP_055954.1:p.Phe40Leu | |
| XM_006710478.1:c.118T>C | XP_006710541.1:p.Phe40Leu | |
| XM_011541070.1:c.118T>C | XP_011539372.1:p.Phe40Leu | |
| XM_006710478.2:c.118T>C | XP_006710541.1:p.Phe40Leu | |
| XM_011541070.2:c.118T>C | XP_011539372.1:p.Phe40Leu | |
| XR_001737057.2:n.528T>C | ||
| XR_001737058.2:n.521T>C | ||
| NM_015139.3:c.118T>C MANE Select | NP_055954.1:p.Phe40Leu |