Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191797T>G , CM000666.2:g.186191797T>G | GRCh38 |
| NC_000004.11:g.187112951T>G , CM000666.1:g.187112951T>G | GRCh37 |
| NC_000004.10:g.187349945T>G | NCBI36 |
| NG_007965.1:g.5278T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-27T>G MANE Select | ENSP00000368079.4:n.-27T>G | |
| ENST00000378802.4:c.-27T>G | ENSP00000368079.4:n.-27T>G | |
| NM_207352.3:c.-27T>G | NP_997235.3:n.-27T>G | |
| XM_005262935.2:c.-27T>G | XP_005262992.1:n.-27T>G | |
| XM_005262935.4:c.-27T>G | XP_005262992.1:n.-27T>G | |
| XM_017008037.1:c.-337T>G | XP_016863526.1:n.-337T>G | |
| NM_207352.4:c.-27T>G MANE Select | NP_997235.3:n.-27T>G |