Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898765G>T , CM000679.2:g.4898765G>T | GRCh38 |
| NC_000017.10:g.4802060G>T , CM000679.1:g.4802060G>T | GRCh37 |
| NC_000017.9:g.4742839G>T | NCBI36 |
| NG_008029.2:g.9311C>A | |
| NG_028005.1:g.70426G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1453C>A MANE Select | ENSP00000497829.1:p.Leu485Ile | |
| ENST00000649830.1:c.*89C>A | ENSP00000496907.1:n.*89C>A | |
| ENST00000652550.1:n.1179C>A | ||
| ENST00000293780.4:c.1453C>A | ENSP00000293780.4:p.Leu485Ile | |
| ENST00000572438.1:n.1139C>A | ||
| NM_000080.3:c.1453C>A | NP_000071.1:p.Leu485Ile | |
| NM_000080.4:c.1453C>A MANE Select | NP_000071.1:p.Leu485Ile | |
| XM_017024115.1:c.1417C>A | XP_016879604.1:p.Leu473Ile |