Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116804G= , CM000669.2:g.19116804G= | GRCh38 |
| NC_000007.13:g.19156427G= , CM000669.1:g.19156427G= | GRCh37 |
| NC_000007.12:g.19122952G= | NCBI36 |
| NG_008114.1:g.5869C= | |
| NG_008114.2:g.5869C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.518C= MANE Select | ENSP00000242261.5:p.Ala173= | |
| ENST00000242261.5:c.518C= | ENSP00000242261.5:p.Ala173= | |
| ENST00000354571.5:c.315C= | ||
| ENST00000443687.5:c.121C= | ||
| NM_000474.3:c.518C= | NP_000465.1:p.Ala173= | |
| XM_011515496.1:c.518C= | XP_011513798.1:p.Ala173= | |
| NR_149001.1:n.869C= | ||
| NM_000474.4:c.518C= MANE Select | NP_000465.1:p.Ala173= | |
| NR_149001.2:n.833C= |