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