Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191791C>G , CM000666.2:g.186191791C>G | GRCh38 |
| NC_000004.11:g.187112945C>G , CM000666.1:g.187112945C>G | GRCh37 |
| NC_000004.10:g.187349939C>G | NCBI36 |
| NG_007965.1:g.5272C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-33C>G MANE Select | ENSP00000368079.4:n.-33C>G | |
| ENST00000378802.4:c.-33C>G | ENSP00000368079.4:n.-33C>G | |
| NM_207352.3:c.-33C>G | NP_997235.3:n.-33C>G | |
| XM_005262935.2:c.-33C>G | XP_005262992.1:n.-33C>G | |
| XM_005262935.4:c.-33C>G | XP_005262992.1:n.-33C>G | |
| XM_017008037.1:c.-343C>G | XP_016863526.1:n.-343C>G | |
| NM_207352.4:c.-33C>G MANE Select | NP_997235.3:n.-33C>G |