Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237889893A>T , CM000663.2:g.237889893A>T | GRCh38 |
| NC_000001.10:g.238053193A>T , CM000663.1:g.238053193A>T | GRCh37 |
| NC_000001.9:g.236119816A>T | NCBI36 |
| NG_008799.2:g.852492A>T | |
| NG_046920.1:g.6030T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366570.5:c.374T>A MANE Select | ENSP00000355529.4:p.Leu125Gln | |
| ENST00000366570.4:c.374T>A | ENSP00000355529.4:p.Leu125Gln | |
| ENST00000611898.4:c.374T>A | ENSP00000482304.1:p.Leu125Gln | |
| NM_021186.3:c.374T>A | NP_067009.1:p.Leu125Gln | |
| NR_027247.2:n.410+7325A>T | ||
| NM_021186.4:c.374T>A | NP_067009.1:p.Leu125Gln | |
| NM_021186.5:c.374T>A MANE Select | NP_067009.1:p.Leu125Gln |