Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.37654970G= , CM000683.2:g.37654970G= | GRCh38 |
| NC_000021.8:g.39027272G= , CM000683.1:g.39027272G= | GRCh37 |
| NC_000021.7:g.37949142G= | NCBI36 |
| NG_029892.2:g.266424C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002240.5:c.947-29486C= MANE Select | NP_002231.1:n.947-29486C= |
| ENST00000609713.2:c.947-29486C= MANE Select | ENSP00000477437.1:n.947-29486C= |
| NM_002240.3:c.947-29486C= | NP_002231.1:n.947-29486C= |
| NM_002240.4:c.947-29486C= | NP_002231.1:n.947-29486C= |
| ENST00000609713.1:c.947-29486C= | ENSP00000477437.1:n.947-29486C= |
| ENST00000645093.1:c.947-29486C= | ENSP00000493772.1:n.947-29486C= |
| XM_011529558.1:c.947-29486C= | XP_011527860.1:n.947-29486C= |
| XM_011529559.1:c.947-29486C= | XP_011527861.1:n.947-29486C= |