Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116972T>A , CM000669.2:g.19116972T>A | GRCh38 |
| NC_000007.13:g.19156595T>A , CM000669.1:g.19156595T>A | GRCh37 |
| NC_000007.12:g.19123120T>A | NCBI36 |
| NG_008114.1:g.5701A>T | |
| NG_008114.2:g.5701A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.350A>T MANE Select | ENSP00000242261.5:p.Glu117Val | |
| ENST00000242261.5:c.350A>T | ENSP00000242261.5:p.Glu117Val | |
| ENST00000354571.5:c.147A>T | ||
| NM_000474.3:c.350A>T | NP_000465.1:p.Glu117Val | |
| XM_011515496.1:c.350A>T | XP_011513798.1:p.Glu117Val | |
| NR_149001.1:n.701A>T | ||
| NM_000474.4:c.350A>T MANE Select | NP_000465.1:p.Glu117Val | |
| NR_149001.2:n.665A>T |