Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78118133G>C , CM000685.2:g.78118133G>C | GRCh38 |
| NC_000023.10:g.77373630G>C , CM000685.1:g.77373630G>C | GRCh37 |
| NC_000023.9:g.77260286G>C | NCBI36 |
| NG_008862.1:g.18965G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.604G>C MANE Select | ENSP00000362413.4:p.Glu202Gln | |
| ENST00000644362.1:c.520G>C | ENSP00000496140.1:p.Glu174Gln | |
| ENST00000373316.4:c.604G>C | ENSP00000362413.4:p.Glu202Gln | |
| ENST00000491291.1:n.596G>C | ||
| NM_000291.3:c.604G>C | NP_000282.1:p.Glu202Gln | |
| NM_000291.4:c.604G>C MANE Select | NP_000282.1:p.Glu202Gln |