Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52679757C>G , CM000674.2:g.52679757C>G | GRCh38 |
| NC_000012.11:g.53073541C>G , CM000674.1:g.53073541C>G | GRCh37 |
| NC_000012.10:g.51359808C>G | NCBI36 |
| NG_008364.1:g.5651G>C | |
| NG_008364.2:g.5651G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.591+1G>C MANE Select | ENSP00000252244.3:n.591+1G>C | |
| NM_006121.3:c.591+1G>C | NP_006112.3:n.591+1G>C | |
| NM_006121.4:c.591+1G>C MANE Select | NP_006112.3:n.591+1G>C |