Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20588697A>C , CM000686.2:g.20588697A>C | GRCh38 |
| NC_000024.9:g.22750583A>C , CM000686.1:g.22750583A>C | GRCh37 |
| NC_000024.8:g.21159971A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004681.4:c.337+592A>C MANE Select | NP_004672.2:n.337+592A>C |
| ENST00000361365.7:c.337+592A>C MANE Select | ENSP00000354722.2:n.337+592A>C |
| NM_001278612.1:c.286+592A>C | NP_001265541.1:n.286+592A>C |
| NM_001278612.2:c.286+592A>C | NP_001265541.1:n.286+592A>C |
| NM_004681.3:c.337+592A>C | NP_004672.2:n.337+592A>C |
| ENST00000361365.6:c.337+592A>C | ENSP00000354722.2:n.337+592A>C |
| ENST00000382772.3:c.286+592A>C | ENSP00000372222.3:n.286+592A>C |
| ENST00000464196.5:n.1980A>C | |
| ENST00000485584.1:n.259+592A>C |