Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43758681C>A , CM000679.2:g.43758681C>A | GRCh38 |
| NC_000017.10:g.41836049C>A , CM000679.1:g.41836049C>A | GRCh37 |
| NC_000017.9:g.39191575C>A | NCBI36 |
| NG_008078.2:g.5108G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025237.3:c.61G>T MANE Select | NP_079513.1:p.Val21Leu |
| ENST00000301691.3:c.61G>T MANE Select | ENSP00000301691.1:p.Val21Leu |
| NM_025237.2:c.61G>T | NP_079513.1:p.Val21Leu |
| ENST00000301691.2:c.61G>T | ENSP00000301691.1:p.Val21Leu |