Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116965C>T , CM000669.2:g.19116965C>T | GRCh38 |
| NC_000007.13:g.19156588C>T , CM000669.1:g.19156588C>T | GRCh37 |
| NC_000007.12:g.19123113C>T | NCBI36 |
| NG_008114.1:g.5708G>A | |
| NG_008114.2:g.5708G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.357G>A MANE Select | ENSP00000242261.5:p.Gln119= | |
| ENST00000242261.5:c.357G>A | ENSP00000242261.5:p.Gln119= | |
| ENST00000354571.5:c.154G>A | ||
| NM_000474.3:c.357G>A | NP_000465.1:p.Gln119= | |
| XM_011515496.1:c.357G>A | XP_011513798.1:p.Gln119= | |
| NR_149001.1:n.708G>A | ||
| NM_000474.4:c.357G>A MANE Select | NP_000465.1:p.Gln119= | |
| NR_149001.2:n.672G>A |