Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186191676G>A , CM000666.2:g.186191676G>A | GRCh38 |
| NC_000004.11:g.187112830G>A , CM000666.1:g.187112830G>A | GRCh37 |
| NC_000004.10:g.187349824G>A | NCBI36 |
| NG_007965.1:g.5157G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.-148G>A MANE Select | ENSP00000368079.4:n.-148G>A | |
| ENST00000378802.4:c.-148G>A | ENSP00000368079.4:n.-148G>A | |
| NM_207352.3:c.-148G>A | NP_997235.3:n.-148G>A | |
| XM_005262935.2:c.-148G>A | XP_005262992.1:n.-148G>A | |
| XM_017008037.1:c.-458G>A | XP_016863526.1:n.-458G>A | |
| NM_207352.4:c.-148G>A MANE Select | NP_997235.3:n.-148G>A |