Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42194808A>G , CM000668.2:g.42194808A>G | GRCh38 |
| NC_000006.11:g.42162546A>G , CM000668.1:g.42162546A>G | GRCh37 |
| NC_000006.10:g.42270524A>G | NCBI36 |
| NG_016216.1:g.5149T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002098.6:c.13T>C MANE Select | NP_002089.4:p.Phe5Leu |
| ENST00000230361.4:c.13T>C MANE Select | ENSP00000230361.3:p.Phe5Leu |
| NM_002098.5:c.13T>C | NP_002089.4:p.Phe5Leu |
| ENST00000230361.3:c.13T>C | ENSP00000230361.3:p.Phe5Leu |
| XM_011514540.1:c.4-6077T>C | XP_011512842.1:n.4-6077T>C |