Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39606212C>G , CM000679.2:g.39606212C>G | GRCh38 |
| NC_000017.10:g.37762465C>G , CM000679.1:g.37762465C>G | GRCh37 |
| NC_000017.9:g.35015991C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006160.4:c.388G>C MANE Select | NP_006151.3:p.Glu130Gln |
| ENST00000302584.5:c.388G>C MANE Select | ENSP00000306754.4:p.Glu130Gln |
| NM_006160.3:c.388G>C | NP_006151.3:p.Glu130Gln |
| ENST00000302584.4:c.388G>C | ENSP00000306754.4:p.Glu130Gln |
| ENST00000580874.1:n.3566G>C | |
| XM_005257409.2:c.412G>C | XP_005257466.1:p.Glu138Gln |
| XM_011524851.1:c.388G>C | XP_011523153.1:p.Glu130Gln |