Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60713945C>T , CM000676.2:g.60713945C>T | GRCh38 |
| NC_000014.8:g.61180663C>T , CM000676.1:g.61180663C>T | GRCh37 |
| NC_000014.7:g.60250416C>T | NCBI36 |
| NG_021182.1:g.15190G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017420.5:c.1808G>A MANE Select | NP_059116.3:p.Gly603Asp |
| ENST00000216513.5:c.1808G>A MANE Select | ENSP00000216513.4:p.Gly603Asp |
| NM_017420.4:c.1808G>A | NP_059116.3:p.Gly603Asp |
| ENST00000216513.4:c.1808G>A | ENSP00000216513.4:p.Gly603Asp |
| ENST00000554079.1:n.1225G>A | |
| XM_005267759.1:c.1784G>A | XP_005267816.1:p.Gly595Asp |
| XM_005267759.2:c.1784G>A | XP_005267816.1:p.Gly595Asp |
| XR_001750375.2:n.2044G>A |