Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.13885282C>G , CM000680.2:g.13885282C>G | GRCh38 |
| NC_000018.9:g.13885281C>G , CM000680.1:g.13885281C>G | GRCh37 |
| NC_000018.8:g.13875281C>G | NCBI36 |
| NG_011819.1:g.35255G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327606.4:c.237G>C MANE Select | ENSP00000333821.2:p.Leu79Phe | |
| ENST00000327606.3:c.237G>C | ENSP00000333821.2:p.Leu79Phe | |
| ENST00000399821.2:c.237G>C | ENSP00000382718.2:p.Leu79Phe | |
| NM_000529.2:c.237G>C MANE Select | NP_000520.1:p.Leu79Phe | |
| NM_001291911.1:c.237G>C | NP_001278840.1:p.Leu79Phe | |
| XM_017025781.1:c.237G>C | XP_016881270.1:p.Leu79Phe |