Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161222378G= , CM000663.2:g.161222378G= | GRCh38 |
| NC_000001.10:g.161192168G= , CM000663.1:g.161192168G= | GRCh37 |
| NC_000001.9:g.159458792G= | NCBI36 |
| NG_012043.1:g.6251C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367990.7:c.*27C= MANE Select | ENSP00000356969.3:n.*27C= | |
| ENST00000463812.1:c.*27C= | ENSP00000476890.1:n.*27C= | |
| ENST00000464492.5:c.*27C= | ENSP00000476911.1:n.*27C= | |
| ENST00000468465.5:c.*27C= | ENSP00000476662.1:n.*27C= | |
| ENST00000470459.6:c.*27C= | ENSP00000477031.1:n.*27C= | |
| ENST00000481413.1:n.841C= | ||
| ENST00000481511.5:c.*327C= | ENSP00000477054.1:n.*327C= | |
| ENST00000491350.1:c.*113C= | ENSP00000477353.1:n.*113C= | |
| NM_001643.1:c.*27C= | NP_001634.1:n.*27C= | |
| NM_001643.2:c.*27C= MANE Select | NP_001634.1:n.*27C= |