Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670850G= , CM000670.2:g.86670850G= | GRCh38 |
| NC_000008.10:g.87683078G= , CM000670.1:g.87683078G= | GRCh37 |
| NC_000008.9:g.87752194G= | NCBI36 |
| NG_016980.1:g.77826C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+94C= MANE Select | ENSP00000316605.5:n.493+94C= | |
| ENST00000680314.1:n.254+94C= | ||
| ENST00000681746.1:c.493+94C= | ENSP00000505959.1:n.493+94C= | |
| ENST00000320005.5:c.493+94C= | ENSP00000316605.5:n.493+94C= | |
| NM_019098.4:c.493+94C= | NP_061971.3:n.493+94C= | |
| XM_011517138.1:c.79+94C= | XP_011515440.1:n.79+94C= | |
| XM_011517138.2:c.79+94C= | XP_011515440.1:n.79+94C= | |
| NM_019098.5:c.493+94C= MANE Select | NP_061971.3:n.493+94C= |