Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.9102760C>G , CM000680.2:g.9102760C>G | GRCh38 |
| NC_000018.9:g.9102758C>G , CM000680.1:g.9102758C>G | GRCh37 |
| NC_000018.8:g.9092758C>G | NCBI36 |
| NG_013355.1:g.5131C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318388.11:c.17C>G MANE Select | ENSP00000327268.6:p.Ala6Gly | |
| ENST00000318388.10:c.17C>G | ENSP00000327268.6:p.Ala6Gly | |
| ENST00000497577.2:c.17C>G | ENSP00000464504.1:p.Ala6Gly | |
| ENST00000577703.1:c.17C>G | ENSP00000461911.1:p.Ala6Gly | |
| NM_021074.4:c.17C>G | NP_066552.2:p.Ala6Gly | |
| XR_243808.1:n.119C>G | ||
| XR_002958175.1:n.119C>G | ||
| XR_243808.3:n.34C>G | ||
| NM_021074.5:c.17C>G MANE Select | NP_066552.2:p.Ala6Gly |