Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21619244C= , CM000669.2:g.21619244C= | GRCh38 |
| NC_000007.13:g.21658862C= , CM000669.1:g.21658862C= | GRCh37 |
| NC_000007.12:g.21625387C= | NCBI36 |
| NG_012886.2:g.81030C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.4377+22C= MANE Select | ENSP00000475939.1:n.4377+22C= | |
| ENST00000328843.10:c.4392+22C= | ENSP00000330671.7:n.4392+22C= | |
| ENST00000409508.7:c.4377+22C= | ENSP00000475939.1:n.4377+22C= | |
| ENST00000465593.1:n.403+22C= | ||
| ENST00000620169.4:c.4392+22C= | ENSP00000481693.1:n.4392+22C= | |
| NM_001277115.1:c.4377+22C= | NP_001264044.1:n.4377+22C= | |
| NM_001277115.2:c.4377+22C= MANE Select | NP_001264044.1:n.4377+22C= |