Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47733460C>G , CM000679.2:g.47733460C>G | GRCh38 |
| NC_000017.10:g.45810826C>G , CM000679.1:g.45810826C>G | GRCh37 |
| NC_000017.9:g.43165825C>G | NCBI36 |
| NG_012166.1:g.5217C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000177694.2:c.6C>G MANE Select | ENSP00000177694.1:p.Gly2= | |
| ENST00000177694.1:c.6C>G | ENSP00000177694.1:p.Gly2= | |
| ENST00000581328.1:n.36C>G | ||
| NM_013351.1:c.6C>G | NP_037483.1:p.Gly2= | |
| XM_011524698.1:c.6C>G | XP_011523000.1:p.Gly2= | |
| NM_013351.2:c.6C>G MANE Select | NP_037483.1:p.Gly2= |