Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.12356454G>C , CM000663.2:g.12356454G>C | GRCh38 |
| NC_000001.10:g.12416511G>C , CM000663.1:g.12416511G>C | GRCh37 |
| NC_000001.9:g.12339098G>C | NCBI36 |
| NG_056877.1:g.131416G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015378.4:c.9928G>C MANE Select | NP_056193.2:p.Glu3310Gln |
| ENST00000620676.6:c.9928G>C MANE Select | ENSP00000478104.1:p.Glu3310Gln |
| NM_015378.3:c.9928G>C | NP_056193.2:p.Glu3310Gln |
| NM_018156.3:c.9853G>C | NP_060626.2:p.Glu3285Gln |
| NM_018156.4:c.9853G>C | NP_060626.2:p.Glu3285Gln |
| ENST00000011700.10:c.6393G>C | |
| ENST00000460333.5:n.3931G>C | |
| ENST00000613099.4:c.9853G>C | ENSP00000482233.1:p.Glu3285Gln |
| ENST00000620676.4:c.9928G>C | ENSP00000478104.1:p.Glu3310Gln |
| ENST00000646411.1:n.104G>C | |
| ENST00000646917.1:c.4593G>C |