Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.55248613C= , CM000668.2:g.55248613C= | GRCh38 |
| NC_000006.11:g.55113411C= , CM000668.1:g.55113411C= | GRCh37 |
| NC_000006.10:g.55221370C= | NCBI36 |
| NG_012447.1:g.79341C= | |
| NG_012447.2:g.147154C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370862.4:c.224-26C= MANE Select | ENSP00000359899.3:n.224-26C= | |
| ENST00000370862.3:c.224-26C= | ENSP00000359899.3:n.224-26C= | |
| ENST00000615358.4:c.224-26C= | ENSP00000477548.1:n.224-26C= | |
| NM_001526.3:c.224-26C= | NP_001517.2:n.224-26C= | |
| XM_011514542.1:c.29-26C= | XP_011512844.1:n.29-26C= | |
| NM_001526.4:c.224-26C= | NP_001517.2:n.224-26C= | |
| XM_017010798.1:c.224-26C= | XP_016866287.1:n.224-26C= | |
| NM_001384272.1:c.224-26C= MANE Select | NP_001371201.1:n.224-26C= | |
| NM_001526.5:c.224-26C= | NP_001517.2:n.224-26C= |