Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922694C>G , CM000676.2:g.102922694C>G | GRCh38 |
| NC_000014.8:g.103389031C>G , CM000676.1:g.103389031C>G | GRCh37 |
| NC_000014.7:g.102458784C>G | NCBI36 |
| NG_008276.2:g.5039C>G , LRG_642:g.5039C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.6C>G MANE Select | ENSP00000299155.6:p.Gly2= | |
| ENST00000299155.9:c.6C>G | ENSP00000299155.5:p.Gly2= | |
| NM_030943.3:c.6C>G , LRG_642t1:c.6C>G | NP_112205.2:p.Gly2= | |
| XM_011537202.1:c.-176C>G | XP_011535504.1:n.-176C>G | |
| XM_011537202.3:c.-176C>G | XP_011535504.1:n.-176C>G | |
| XM_024449714.1:c.102C>G | XP_024305482.1:p.Gly34= | |
| NM_030943.4:c.6C>G MANE Select | NP_112205.2:p.Gly2= |