Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6085104C>G , CM000682.2:g.6085104C>G | GRCh38 |
| NC_000020.10:g.6065751C>G , CM000682.1:g.6065751C>G | GRCh37 |
| NC_000020.9:g.6013751C>G | NCBI36 |
| NG_016213.1:g.43441G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699095.1:c.1555G>C | ENSP00000514127.1:p.Val519Leu | |
| ENST00000217289.9:c.1555G>C MANE Select | ENSP00000217289.4:p.Val519Leu | |
| ENST00000217289.8:c.1555G>C | ENSP00000217289.4:p.Val519Leu | |
| ENST00000478194.1:n.515G>C | ||
| ENST00000536936.1:c.784G>C | ENSP00000441063.1:p.Val262Leu | |
| NM_017671.4:c.1555G>C | NP_060141.3:p.Val519Leu | |
| XM_024451935.1:c.1555G>C | XP_024307703.1:p.Val519Leu | |
| NM_017671.5:c.1555G>C MANE Select | NP_060141.3:p.Val519Leu |