Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117076G>C , CM000669.2:g.19117076G>C | GRCh38 |
| NC_000007.13:g.19156699G>C , CM000669.1:g.19156699G>C | GRCh37 |
| NC_000007.12:g.19123224G>C | NCBI36 |
| NG_008114.1:g.5597C>G | |
| NG_008114.2:g.5597C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.246C>G MANE Select | ENSP00000242261.5:p.Gly82= | |
| ENST00000242261.5:c.246C>G | ENSP00000242261.5:p.Gly82= | |
| ENST00000354571.5:c.43C>G | ||
| NM_000474.3:c.246C>G | NP_000465.1:p.Gly82= | |
| XM_011515496.1:c.246C>G | XP_011513798.1:p.Gly82= | |
| NR_149001.1:n.597C>G | ||
| NM_000474.4:c.246C>G MANE Select | NP_000465.1:p.Gly82= | |
| NR_149001.2:n.561C>G |