Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718802G>A , CM000667.2:g.74718802G>A | GRCh38 |
| NC_000005.9:g.74014627G>A , CM000667.1:g.74014627G>A | GRCh37 |
| NC_000005.8:g.74050383G>A | NCBI36 |
| NG_009770.1:g.38659G>A | |
| NG_009770.2:g.83780G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1248G>A MANE Select | NP_000512.2:p.Ala416= |
| ENST00000261416.12:c.1248G>A MANE Select | ENSP00000261416.7:p.Ala416= |
| NM_000521.3:c.1248G>A | NP_000512.1:p.Ala416= |
| NM_001292004.1:c.573G>A | NP_001278933.1:p.Ala191= |
| NM_001292004.2:c.573G>A | NP_001278933.1:p.Ala191= |
| ENST00000261416.11:c.1248G>A | ENSP00000261416.7:p.Ala416= |
| ENST00000503312.5:c.124G>A | |
| ENST00000504459.5:n.445G>A | |
| ENST00000511181.5:c.573G>A | ENSP00000426285.1:p.Ala191= |
| ENST00000513336.5:c.184G>A | |
| ENST00000513539.1:n.74-107G>A |