Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112832726C>T , CM000664.2:g.112832726C>T | GRCh38 |
| NC_000002.11:g.113590303C>T , CM000664.1:g.113590303C>T | GRCh37 |
| NC_000002.10:g.113306774C>T | NCBI36 |
| NG_008851.1:g.9054G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263341.7:c.402G>A MANE Select | ENSP00000263341.2:p.Leu134= | |
| ENST00000263341.6:c.402G>A | ENSP00000263341.2:p.Leu134= | |
| ENST00000418817.5:c.402G>A | ENSP00000407219.1:p.Leu134= | |
| ENST00000487639.1:n.303G>A | ||
| ENST00000491056.5:n.1209G>A | ||
| NM_000576.2:c.402G>A | NP_000567.1:p.Leu134= | |
| XM_006712496.1:c.168G>A | XP_006712559.1:p.Leu56= | |
| XM_017003988.2:c.309G>A | XP_016859477.1:p.Leu103= | |
| NM_000576.3:c.402G>A MANE Select | NP_000567.1:p.Leu134= |