Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116759G= , CM000669.2:g.19116759G= | GRCh38 |
| NC_000007.13:g.19156382G= , CM000669.1:g.19156382G= | GRCh37 |
| NC_000007.12:g.19122907G= | NCBI36 |
| NG_008114.1:g.5914C= | |
| NG_008114.2:g.5914C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000474.4:c.563C= MANE Select | NP_000465.1:p.Ser188= |
| ENST00000242261.6:c.563C= MANE Select | ENSP00000242261.5:p.Ser188= |
| NM_000474.3:c.563C= | NP_000465.1:p.Ser188= |
| NR_149001.1:n.914C= | |
| NR_149001.2:n.878C= | |
| ENST00000242261.5:c.563C= | ENSP00000242261.5:p.Ser188= |
| ENST00000354571.5:c.360C= | |
| ENST00000443687.5:c.166C= | |
| XM_011515496.1:c.563C= | XP_011513798.1:p.Ser188= |