Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659252C>G , CM000685.2:g.136659252C>G | GRCh38 |
| NC_000023.10:g.135741411C>G , CM000685.1:g.135741411C>G | GRCh37 |
| NC_000023.9:g.135569077C>G | NCBI36 |
| NG_007280.1:g.16076C>G , LRG_141:g.16076C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*241C>G | ENSP00000512122.1:n.*241C>G | |
| ENST00000695725.1:c.*178C>G | ENSP00000512123.1:n.*178C>G | |
| ENST00000695726.1:n.2591C>G | ||
| ENST00000695729.1:n.3426C>G | ||
| ENST00000370629.7:c.623C>G MANE Select | ENSP00000359663.2:p.Ala208Gly | |
| ENST00000370628.2:c.560C>G | ENSP00000359662.2:p.Ala187Gly | |
| ENST00000370629.6:c.623C>G | ENSP00000359663.2:p.Ala208Gly | |
| NM_000074.2:c.623C>G , LRG_141t1:c.623C>G | NP_000065.1:p.Ala208Gly | |
| NM_000074.3:c.623C>G MANE Select | NP_000065.1:p.Ala208Gly |