Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38173827A= , CM000670.2:g.38173827A= | GRCh38 |
| NC_000008.10:g.38031345A= , CM000670.1:g.38031345A= | GRCh37 |
| NC_000008.9:g.38150502A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311351.9:c.47-1794T= MANE Select | ENSP00000310596.4:n.47-1794T= | |
| ENST00000311351.8:c.47-1794T= | ENSP00000310596.4:n.47-1794T= | |
| ENST00000520286.5:n.179-1794T= | ||
| ENST00000520755.5:c.47-1794T= | ENSP00000430021.1:n.47-1794T= | |
| ENST00000522515.5:n.902-1794T= | ||
| ENST00000523511.1:c.47-1794T= | ENSP00000428307.1:n.47-1794T= | |
| NM_014462.2:c.47-1794T= | NP_055277.1:n.47-1794T= | |
| NR_045492.1:n.457-1794T= | ||
| NR_045493.1:n.179-1794T= | ||
| NM_014462.3:c.47-1794T= MANE Select | NP_055277.1:n.47-1794T= | |
| NR_045492.2:n.220-1794T= |