Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21600164C>T , CM000669.2:g.21600164C>T | GRCh38 |
| NC_000007.13:g.21639782C>T , CM000669.1:g.21639782C>T | GRCh37 |
| NC_000007.12:g.21606307C>T | NCBI36 |
| NG_012886.2:g.61950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.3000+45C>T MANE Select | ENSP00000475939.1:n.3000+45C>T | |
| ENST00000328843.10:c.3000+45C>T | ENSP00000330671.7:n.3000+45C>T | |
| ENST00000409508.7:c.3000+45C>T | ENSP00000475939.1:n.3000+45C>T | |
| ENST00000620169.4:c.3000+45C>T | ENSP00000481693.1:n.3000+45C>T | |
| NM_001277115.1:c.3000+45C>T | NP_001264044.1:n.3000+45C>T | |
| NM_001277115.2:c.3000+45C>T MANE Select | NP_001264044.1:n.3000+45C>T |