Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29920002A>G , CM000664.2:g.29920002A>G | GRCh38 |
| NC_000002.11:g.30142868A>G , CM000664.1:g.30142868A>G | GRCh37 |
| NC_000002.10:g.29996372A>G | NCBI36 |
| NG_009445.1:g.6565T>C , LRG_488:g.6565T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004304.5:c.658T>C MANE Select | NP_004295.2:p.Phe220Leu |
| ENST00000389048.8:c.658T>C MANE Select | ENSP00000373700.3:p.Phe220Leu |
| NM_004304.4:c.658T>C | NP_004295.2:p.Phe220Leu |
| ENST00000389048.7:c.658T>C | ENSP00000373700.3:p.Phe220Leu |
| XR_001738688.2:n.1588T>C |