Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533575A>T , CM000681.2:g.7533575A>T | GRCh38 |
| NC_000019.9:g.7598461A>T , CM000681.1:g.7598461A>T | GRCh37 |
| NC_000019.8:g.7504461A>T | NCBI36 |
| NG_013374.1:g.4424A>T | |
| NG_015806.1:g.15966A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1628A>T MANE Select | ENSP00000264079.5:p.Gln543Leu | |
| ENST00000264079.10:c.1628A>T | ENSP00000264079.5:p.Gln543Leu | |
| ENST00000394321.9:n.1943A>T | ||
| ENST00000599334.1:c.356A>T | ||
| ENST00000602227.1:n.182A>T | ||
| NM_020533.2:c.1628A>T | NP_065394.1:p.Gln543Leu | |
| NM_020533.3:c.1628A>T MANE Select | NP_065394.1:p.Gln543Leu |