Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908223C>A , CM000663.2:g.147908223C>A | GRCh38 |
| NC_000001.10:g.147380350C>A , CM000663.1:g.147380350C>A | GRCh37 |
| NC_000001.9:g.145846974C>A | NCBI36 |
| NG_016242.1:g.10405C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.268C>A MANE Select | ENSP00000358238.1:p.Leu90Met | |
| ENST00000369235.1:c.268C>A | ENSP00000358238.1:p.Leu90Met | |
| NM_005267.4:c.268C>A | NP_005258.2:p.Leu90Met | |
| XM_011509416.1:c.268C>A | XP_011507718.1:p.Leu90Met | |
| XM_011509417.1:c.268C>A | XP_011507719.1:p.Leu90Met | |
| XM_011509417.2:c.268C>A | XP_011507719.1:p.Leu90Met | |
| XR_002956281.1:n.1183C>A | ||
| NM_005267.5:c.268C>A MANE Select | NP_005258.2:p.Leu90Met |