Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15170471G>A , CM000681.2:g.15170471G>A | GRCh38 |
| NC_000019.9:g.15281282G>A , CM000681.1:g.15281282G>A | GRCh37 |
| NC_000019.8:g.15142282G>A | NCBI36 |
| NG_009819.1:g.35511C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000435.3:c.4974C>T MANE Select | NP_000426.2:p.Leu1658= |
| ENST00000263388.7:c.4974C>T MANE Select | ENSP00000263388.1:p.Leu1658= |
| NM_000435.2:c.4974C>T | NP_000426.2:p.Leu1658= |
| ENST00000263388.6:c.4974C>T | ENSP00000263388.1:p.Leu1658= |
| XM_005259924.3:c.4818C>T | XP_005259981.1:p.Leu1606= |
| XM_005259924.4:c.4818C>T | XP_005259981.1:p.Leu1606= |