Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186839211G= , CM000663.2:g.186839211G= | GRCh38 |
| NC_000001.10:g.186808343G= , CM000663.1:g.186808343G= | GRCh37 |
| NC_000001.9:g.185074966G= | NCBI36 |
| NG_012203.1:g.15312G= | |
| NG_012203.2:g.15312G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367466.4:c.-70+10176G= MANE Select | ENSP00000356436.3:n.-70+10176G= | |
| ENST00000367466.3:c.-70+10176G= | ENSP00000356436.3:n.-70+10176G= | |
| NM_001311193.1:c.-70+10176G= | NP_001298122.1:n.-70+10176G= | |
| NM_024420.2:c.-70+10176G= | NP_077734.1:n.-70+10176G= | |
| XM_011509642.1:c.-70+10161G= | XP_011507944.1:n.-70+10161G= | |
| XM_011509642.2:c.-70+10161G= | XP_011507944.1:n.-70+10161G= | |
| NM_001311193.2:c.-70+10176G= | NP_001298122.2:n.-70+10176G= | |
| NM_024420.3:c.-70+10176G= MANE Select | NP_077734.2:n.-70+10176G= |