Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20589165T>C , CM000686.2:g.20589165T>C | GRCh38 |
| NC_000024.9:g.22751051T>C , CM000686.1:g.22751051T>C | GRCh37 |
| NC_000024.8:g.21160439T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361365.7:c.338-319T>C MANE Select | ENSP00000354722.2:n.338-319T>C | |
| ENST00000361365.6:c.338-319T>C | ENSP00000354722.2:n.338-319T>C | |
| ENST00000382772.3:c.287-319T>C | ENSP00000372222.3:n.287-319T>C | |
| ENST00000464196.5:n.2448T>C | ||
| ENST00000485584.1:n.260-319T>C | ||
| NM_001278612.1:c.287-319T>C | NP_001265541.1:n.287-319T>C | |
| NM_004681.3:c.338-319T>C | NP_004672.2:n.338-319T>C | |
| NM_004681.4:c.338-319T>C MANE Select | NP_004672.2:n.338-319T>C | |
| NM_001278612.2:c.287-319T>C | NP_001265541.1:n.287-319T>C |