Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167709191G>C , CM000664.2:g.167709191G>C | GRCh38 |
| NC_000002.11:g.168565701G>C , CM000664.1:g.168565701G>C | GRCh37 |
| NC_000002.10:g.168273947G>C | NCBI36 |
| NG_050644.1:g.421131G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392690.4:c.-352+62225G>C MANE Select | ENSP00000376456.2:n.-352+62225G>C | |
| XM_005246931.2:c.-352+62225G>C | XP_005246988.1:n.-352+62225G>C | |
| XM_011512084.1:c.-352+62225G>C | XP_011510386.1:n.-352+62225G>C | |
| XM_011512085.1:c.-368+62225G>C | XP_011510387.1:n.-368+62225G>C | |
| XM_005246931.3:c.-352+62225G>C | XP_005246988.1:n.-352+62225G>C | |
| XM_011512085.2:c.-368+62225G>C | XP_011510387.1:n.-368+62225G>C | |
| NM_020981.4:c.-352+62225G>C MANE Select | NP_066191.1:n.-352+62225G>C |