Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107092948G>C , CM000674.2:g.107092948G>C | GRCh38 |
| NC_000012.11:g.107486726G>C , CM000674.1:g.107486726G>C | GRCh37 |
| NC_000012.10:g.106010856G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004075.5:c.14C>G MANE Select | NP_004066.1:p.Ala5Gly |
| ENST00000008527.10:c.14C>G MANE Select | ENSP00000008527.5:p.Ala5Gly |
| NM_004075.4:c.14C>G | NP_004066.1:p.Ala5Gly |
| ENST00000008527.9:c.14C>G | ENSP00000008527.5:p.Ala5Gly |
| ENST00000550633.1:n.566C>G | |
| XM_017018832.2:c.-191C>G | XP_016874321.1:n.-191C>G |
| XM_024448844.1:c.14C>G | XP_024304612.1:p.Ala5Gly |
| XM_024448845.1:c.-191C>G | XP_024304613.1:n.-191C>G |