Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920000G>T , CM000664.2:g.29920000G>T | GRCh38 |
| NC_000002.11:g.30142866G>T , CM000664.1:g.30142866G>T | GRCh37 |
| NC_000002.10:g.29996370G>T | NCBI36 |
| NG_009445.1:g.6567C>A , LRG_488:g.6567C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.660C>A MANE Select | NP_004295.2:p.Phe220Leu |
| ENST00000389048.8:c.660C>A MANE Select | ENSP00000373700.3:p.Phe220Leu |
| NM_004304.4:c.660C>A | NP_004295.2:p.Phe220Leu |
| ENST00000389048.7:c.660C>A | ENSP00000373700.3:p.Phe220Leu |
| XR_001738688.2:n.1590C>A |