Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86670735G= , CM000670.2:g.86670735G= | GRCh38 |
| NC_000008.10:g.87682963G= , CM000670.1:g.87682963G= | GRCh37 |
| NC_000008.9:g.87752079G= | NCBI36 |
| NG_016980.1:g.77941C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.493+209C= MANE Select | ENSP00000316605.5:n.493+209C= | |
| ENST00000680314.1:n.254+209C= | ||
| ENST00000681746.1:c.493+209C= | ENSP00000505959.1:n.493+209C= | |
| ENST00000320005.5:c.493+209C= | ENSP00000316605.5:n.493+209C= | |
| NM_019098.4:c.493+209C= | NP_061971.3:n.493+209C= | |
| XM_011517138.1:c.79+209C= | XP_011515440.1:n.79+209C= | |
| XM_011517138.2:c.79+209C= | XP_011515440.1:n.79+209C= | |
| NM_019098.5:c.493+209C= MANE Select | NP_061971.3:n.493+209C= |