Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160128782G>T , CM000663.2:g.160128782G>T | GRCh38 |
| NC_000001.10:g.160098572G>T , CM000663.1:g.160098572G>T | GRCh37 |
| NC_000001.9:g.158365196G>T | NCBI36 |
| NG_008014.1:g.18025G>T , LRG_6:g.18025G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000702.4:c.1148G>T MANE Select | NP_000693.1:p.Arg383Leu |
| ENST00000361216.8:c.1148G>T MANE Select | ENSP00000354490.3:p.Arg383Leu |
| NM_000702.3:c.1148G>T | NP_000693.1:p.Arg383Leu |
| ENST00000361216.7:c.1148G>T | ENSP00000354490.3:p.Arg383Leu |
| ENST00000392233.7:c.1148G>T | ENSP00000376066.3:p.Arg383Leu |
| ENST00000447527.1:c.280G>T | |
| ENST00000472488.5:n.1251G>T |