Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.51341779C>G , CM000677.2:g.51341779C>G | GRCh38 |
| NC_000015.9:g.51633976C>G , CM000677.1:g.51633976C>G | GRCh37 |
| NC_000015.8:g.49421268C>G | NCBI36 |
| NG_007982.1:g.1820G>C | |
| NG_054933.1:g.5264C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_181789.4:c.95C>G MANE Select | NP_861454.2:p.Ala32Gly |
| ENST00000335449.11:c.95C>G MANE Select | ENSP00000335196.6:p.Ala32Gly |
| NM_181789.2:c.95C>G | NP_861454.2:p.Ala32Gly |
| NM_181789.3:c.95C>G | NP_861454.2:p.Ala32Gly |
| ENST00000335449.10:c.95C>G | ENSP00000335196.6:p.Ala32Gly |
| XM_017022121.1:c.95C>G | XP_016877610.1:p.Ala32Gly |
| XM_017022125.1:c.95C>G | XP_016877614.1:p.Ala32Gly |