Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003277G>C , CM000676.2:g.75003277G>C | GRCh38 |
| NC_000014.8:g.75469980G>C , CM000676.1:g.75469980G>C | GRCh37 |
| NC_000014.7:g.74539733G>C | NCBI36 |
| NG_013333.1:g.5369G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.166G>C MANE Select | ENSP00000266126.5:p.Glu56Gln | |
| ENST00000266126.9:c.166G>C | ENSP00000266126.5:p.Glu56Gln | |
| ENST00000553401.5:c.139G>C | ENSP00000451681.1:p.Glu47Gln | |
| ENST00000553539.1:n.306G>C | ||
| ENST00000555522.1:n.224G>C | ||
| ENST00000556028.5:c.166G>C | ENSP00000452311.1:p.Glu56Gln | |
| NM_014239.3:c.166G>C | NP_055054.1:p.Glu56Gln | |
| NM_014239.4:c.166G>C MANE Select | NP_055054.1:p.Glu56Gln |