Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56043494G>C , CM000674.2:g.56043494G>C | GRCh38 |
| NC_000012.11:g.56437278G>C , CM000674.1:g.56437278G>C | GRCh37 |
| NC_000012.10:g.54723545G>C | NCBI36 |
| NG_023201.1:g.6593G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001029.5:c.312+1G>C MANE Select | NP_001020.2:n.312+1G>C |
| ENST00000646449.2:c.312+1G>C MANE Select | ENSP00000496643.1:n.312+1G>C |
| NM_001029.3:c.312+1G>C | NP_001020.2:n.312+1G>C |
| ENST00000356464.10:c.312+1G>C | ENSP00000348849.5:n.312+1G>C |
| ENST00000356464.9:c.312+1G>C | ENSP00000348849.5:n.312+1G>C |
| ENST00000548590.1:n.1099+1G>C | |
| ENST00000552361.1:c.312+1G>C | ENSP00000450339.1:n.312+1G>C |