Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117172C= , CM000669.2:g.19117172C= | GRCh38 |
| NC_000007.13:g.19156795C= , CM000669.1:g.19156795C= | GRCh37 |
| NC_000007.12:g.19123320C= | NCBI36 |
| NG_008114.1:g.5501G= | |
| NG_008114.2:g.5501G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.150G= MANE Select | ENSP00000242261.5:p.Ala50= | |
| ENST00000242261.5:c.150G= | ENSP00000242261.5:p.Ala50= | |
| NM_000474.3:c.150G= | NP_000465.1:p.Ala50= | |
| XM_011515496.1:c.150G= | XP_011513798.1:p.Ala50= | |
| NR_149001.1:n.501G= | ||
| NM_000474.4:c.150G= MANE Select | NP_000465.1:p.Ala50= | |
| NR_149001.2:n.465G= |