Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64414968C>G , CM000674.2:g.64414968C>G | GRCh38 |
| NC_000012.11:g.64808748C>G , CM000674.1:g.64808748C>G | GRCh37 |
| NC_000012.10:g.63095015C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332707.10:c.122C>G MANE Select | ENSP00000327821.5:p.Ala41Gly | |
| ENST00000332707.9:c.122C>G | ENSP00000327821.5:p.Ala41Gly | |
| ENST00000400935.2:c.122C>G | ENSP00000383722.2:p.Ala41Gly | |
| ENST00000540203.5:c.122C>G | ENSP00000441376.1:p.Ala41Gly | |
| NM_007235.4:c.122C>G | NP_009166.2:p.Ala41Gly | |
| XR_944484.1:n.651C>G | ||
| NM_007235.5:c.122C>G | NP_009166.2:p.Ala41Gly | |
| XM_017018748.1:c.122C>G | XP_016874237.1:p.Ala41Gly | |
| XR_944484.3:n.550C>G | ||
| NM_007235.6:c.122C>G MANE Select | NP_009166.2:p.Ala41Gly |