Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10765520C= , CM000663.2:g.10765520C= | GRCh38 |
| NC_000001.10:g.10825577C= , CM000663.1:g.10825577C= | GRCh37 |
| NC_000001.9:g.10748164C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377022.8:c.-233-4663G= MANE Select | ENSP00000366221.3:n.-233-4663G= | |
| ENST00000344008.5:c.-233-4663G= | ENSP00000339445.5:n.-233-4663G= | |
| ENST00000377022.7:c.-233-4663G= | ENSP00000366221.3:n.-233-4663G= | |
| NM_001079843.2:c.-233-4663G= | NP_001073312.1:n.-233-4663G= | |
| NM_017766.4:c.-233-4663G= | NP_060236.3:n.-233-4663G= | |
| XM_017001540.2:c.-233-4663G= | XP_016857029.1:n.-233-4663G= | |
| NM_001079843.3:c.-233-4663G= MANE Select | NP_001073312.1:n.-233-4663G= | |
| NM_017766.5:c.-233-4663G= | NP_060236.3:n.-233-4663G= |