Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.83508630C>A , CM000685.2:g.83508630C>A | GRCh38 |
| NC_000023.10:g.82763638C>A , CM000685.1:g.82763638C>A | GRCh37 |
| NC_000023.9:g.82650294C>A | NCBI36 |
| NG_009936.2:g.5370C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644024.2:c.306C>A MANE Select | ENSP00000495996.1:p.Ala102= | |
| ENST00000373200.4:c.306C>A | ENSP00000362296.2:p.Ala102= | |
| NM_000307.4:c.306C>A | NP_000298.3:p.Ala102= | |
| NM_000307.5:c.306C>A MANE Select | NP_000298.3:p.Ala102= |