Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.22182769C>A , CM000680.2:g.22182769C>A | GRCh38 |
| NC_000018.9:g.19762730C>A , CM000680.1:g.19762730C>A | GRCh37 |
| NC_000018.8:g.18016728C>A | NCBI36 |
| NG_032677.1:g.18327C>A | |
| NG_032677.2:g.18333C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269216.10:c.1441C>A MANE Select | ENSP00000269216.3:p.Leu481Ile | |
| ENST00000269216.7:c.1441C>A | ENSP00000269216.3:p.Leu481Ile | |
| ENST00000581694.1:c.1441C>A | ENSP00000462313.1:p.Leu481Ile | |
| NM_005257.5:c.1441C>A | NP_005248.2:p.Leu481Ile | |
| NM_005257.6:c.1441C>A MANE Select | NP_005248.2:p.Leu481Ile |