Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.25205221A>G , CM000684.2:g.25205221A>G | GRCh38 |
| NC_000022.10:g.25601188A>G , CM000684.1:g.25601188A>G | GRCh37 |
| NC_000022.9:g.23931188A>G | NCBI36 |
| NG_009828.1:g.10364A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004076.5:c.329A>G MANE Select | NP_004067.1:p.Asp110Gly |
| ENST00000215855.7:c.329A>G MANE Select | ENSP00000215855.2:p.Asp110Gly |
| NM_004076.4:c.329A>G | NP_004067.1:p.Asp110Gly |
| ENST00000215855.6:c.329A>G | ENSP00000215855.2:p.Asp110Gly |
| ENST00000404334.1:c.327+1326A>G | ENSP00000386123.1:n.327+1326A>G |
| XM_011529902.1:c.497A>G | XP_011528204.1:p.Asp166Gly |
| XM_011529902.3:c.497A>G | XP_011528204.1:p.Asp166Gly |
| XM_017028599.2:c.495+1326A>G | XP_016884088.1:n.495+1326A>G |