Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73442526C>G , CM000669.2:g.73442526C>G | GRCh38 |
| NC_000007.13:g.72856856C>G , CM000669.1:g.72856856C>G | GRCh37 |
| NC_000007.12:g.72494792C>G | NCBI36 |
| NG_027679.1:g.84760G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339594.9:c.4122G>C MANE Select | ENSP00000342434.4:p.Glu1374Asp | |
| ENST00000339594.8:c.4122G>C | ENSP00000342434.4:p.Glu1374Asp | |
| ENST00000404251.1:c.4122G>C | ENSP00000385442.1:p.Glu1374Asp | |
| NM_032408.3:c.4122G>C | NP_115784.1:p.Glu1374Asp | |
| XM_017012773.2:c.4122G>C | XP_016868262.1:p.Glu1374Asp | |
| NM_032408.4:c.4122G>C MANE Select | NP_115784.1:p.Glu1374Asp | |
| NM_001370402.1:c.4122G>C | NP_001357331.1:p.Glu1374Asp |