Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718363G>A , CM000667.2:g.74718363G>A | GRCh38 |
| NC_000005.9:g.74014188G>A , CM000667.1:g.74014188G>A | GRCh37 |
| NC_000005.8:g.74049944G>A | NCBI36 |
| NG_009770.1:g.38220G>A | |
| NG_009770.2:g.83341G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1242G>A MANE Select | NP_000512.2:p.Lys414= |
| ENST00000261416.12:c.1242G>A MANE Select | ENSP00000261416.7:p.Lys414= |
| NM_000521.3:c.1242G>A | NP_000512.1:p.Lys414= |
| NM_001292004.1:c.567G>A | NP_001278933.1:p.Lys189= |
| NM_001292004.2:c.567G>A | NP_001278933.1:p.Lys189= |
| ENST00000261416.11:c.1242G>A | ENSP00000261416.7:p.Lys414= |
| ENST00000503312.5:c.118G>A | |
| ENST00000504459.5:n.439G>A | |
| ENST00000511181.5:c.567G>A | ENSP00000426285.1:p.Lys189= |
| ENST00000513336.5:c.178G>A | |
| ENST00000513539.1:n.73G>A |