Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.167302841A= , CM000664.2:g.167302841A= | GRCh38 |
| NC_000002.11:g.168159351A= , CM000664.1:g.168159351A= | GRCh37 |
| NC_000002.10:g.167867597A= | NCBI36 |
| NG_050644.1:g.14781A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392690.4:c.-511+9507A= MANE Select | ENSP00000376456.2:n.-511+9507A= | |
| XM_005246931.2:c.-511+9507A= | XP_005246988.1:n.-511+9507A= | |
| XM_011512085.1:c.-527+9507A= | XP_011510387.1:n.-527+9507A= | |
| XM_005246931.3:c.-511+9507A= | XP_005246988.1:n.-511+9507A= | |
| XM_011512085.2:c.-527+9507A= | XP_011510387.1:n.-527+9507A= | |
| NM_020981.4:c.-511+9507A= MANE Select | NP_066191.1:n.-511+9507A= |