Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899376C>T , CM000679.2:g.4899376C>T | GRCh38 |
| NC_000017.10:g.4802671C>T , CM000679.1:g.4802671C>T | GRCh37 |
| NC_000017.9:g.4743450C>T | NCBI36 |
| NG_008029.2:g.8700G>A | |
| NG_028005.1:g.71037C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1041G>A MANE Select | ENSP00000497829.1:p.Leu347= | |
| ENST00000649830.1:c.108G>A | ENSP00000496907.1:p.Leu36= | |
| ENST00000652550.1:n.771G>A | ||
| ENST00000293780.4:c.1041G>A | ENSP00000293780.4:p.Leu347= | |
| ENST00000572438.1:n.727G>A | ||
| NM_000080.3:c.1041G>A | NP_000071.1:p.Leu347= | |
| NM_000080.4:c.1041G>A MANE Select | NP_000071.1:p.Leu347= | |
| XM_017024115.1:c.1005G>A | XP_016879604.1:p.Leu335= | |
| XR_001752421.1:n.1771G>A |