Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132434G= , CM000669.2:g.147132434G= | GRCh38 |
| NC_000007.13:g.146829526G= , CM000669.1:g.146829526G= | GRCh37 |
| NC_000007.12:g.146460459G= | NCBI36 |
| NG_007092.2:g.1021074G= | |
| NG_007092.3:g.1021434G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1273G= MANE Select | ENSP00000354778.3:p.Asp425= | |
| ENST00000636561.1:n.1176G= | ||
| ENST00000636870.1:n.1135G= | ||
| ENST00000637150.1:n.1202G= | ||
| ENST00000637694.1:n.1176G= | ||
| ENST00000637825.1:n.756G= | ||
| ENST00000638117.1:n.1176G= | ||
| ENST00000361727.7:c.1273G= | ENSP00000354778.3:p.Asp425= | |
| NM_014141.5:c.1273G= | NP_054860.1:p.Asp425= | |
| XM_017011950.2:c.1273G= | XP_016867439.1:p.Asp425= | |
| NM_014141.6:c.1273G= MANE Select | NP_054860.1:p.Asp425= |