Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.20588974T= , CM000686.2:g.20588974T= | GRCh38 |
| NC_000024.9:g.22750860T= , CM000686.1:g.22750860T= | GRCh37 |
| NC_000024.8:g.21160248T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361365.7:c.338-510T= MANE Select | ENSP00000354722.2:n.338-510T= | |
| ENST00000361365.6:c.338-510T= | ENSP00000354722.2:n.338-510T= | |
| ENST00000382772.3:c.287-510T= | ENSP00000372222.3:n.287-510T= | |
| ENST00000464196.5:n.2257T= | ||
| ENST00000485584.1:n.260-510T= | ||
| NM_001278612.1:c.287-510T= | NP_001265541.1:n.287-510T= | |
| NM_004681.3:c.338-510T= | NP_004672.2:n.338-510T= | |
| NM_004681.4:c.338-510T= MANE Select | NP_004672.2:n.338-510T= | |
| NM_001278612.2:c.287-510T= | NP_001265541.1:n.287-510T= |