Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20591193A>C , CM000686.2:g.20591193A>C | GRCh38 |
| NC_000024.9:g.22753079A>C , CM000686.1:g.22753079A>C | GRCh37 |
| NC_000024.8:g.21162467A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004681.4:c.430-1148A>C MANE Select | NP_004672.2:n.430-1148A>C |
| ENST00000361365.7:c.430-1148A>C MANE Select | ENSP00000354722.2:n.430-1148A>C |
| NM_001278612.1:c.379-1148A>C | NP_001265541.1:n.379-1148A>C |
| NM_001278612.2:c.379-1148A>C | NP_001265541.1:n.379-1148A>C |
| NM_004681.3:c.430-1148A>C | NP_004672.2:n.430-1148A>C |
| ENST00000361365.6:c.430-1148A>C | ENSP00000354722.2:n.430-1148A>C |
| ENST00000382772.3:c.379-1148A>C | ENSP00000372222.3:n.379-1148A>C |
| ENST00000464196.5:n.2859-1148A>C | |
| ENST00000485584.1:n.352-1148A>C |