Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898793G>A , CM000679.2:g.4898793G>A | GRCh38 |
| NC_000017.10:g.4802088G>A , CM000679.1:g.4802088G>A | GRCh37 |
| NC_000017.9:g.4742867G>A | NCBI36 |
| NG_008029.2:g.9283C>T | |
| NG_028005.1:g.70454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1425C>T MANE Select | ENSP00000497829.1:p.Leu475= | |
| ENST00000649830.1:c.*61C>T | ENSP00000496907.1:n.*61C>T | |
| ENST00000652550.1:n.1151C>T | ||
| ENST00000293780.4:c.1425C>T | ENSP00000293780.4:p.Leu475= | |
| ENST00000572438.1:n.1111C>T | ||
| NM_000080.3:c.1425C>T | NP_000071.1:p.Leu475= | |
| NM_000080.4:c.1425C>T MANE Select | NP_000071.1:p.Leu475= | |
| XM_017024115.1:c.1389C>T | XP_016879604.1:p.Leu463= |