Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273334G>C , CM000676.2:g.91273334G>C | GRCh38 |
| NC_000014.8:g.91739678G>C , CM000676.1:g.91739678G>C | GRCh37 |
| NC_000014.7:g.90809431G>C | NCBI36 |
| NG_033118.1:g.149511C>G | |
| NG_033118.2:g.149511C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080414.4:c.5378C>G MANE Select | NP_001073883.2:p.Ala1793Gly |
| ENST00000389857.11:c.5378C>G MANE Select | ENSP00000374507.6:p.Ala1793Gly |
| NM_001080414.3:c.5378C>G | NP_001073883.2:p.Ala1793Gly |
| ENST00000331194.8:c.924+26C>G | ENSP00000330332.8:n.924+26C>G |
| ENST00000389857.10:c.5378C>G | ENSP00000374507.6:p.Ala1793Gly |
| ENST00000556726.5:c.1606C>G | |
| XM_011536796.1:c.5270C>G | XP_011535098.1:p.Ala1757Gly |
| XM_011536796.2:c.5270C>G | XP_011535098.1:p.Ala1757Gly |
| XM_017021336.1:c.2459C>G | XP_016876825.1:p.Ala820Gly |