Linked Data
ClinVar Variation Id:
2142099
dbSNP Id:
rs765771864
ExAC:
16:17228330 C / T
gnomAD v2:
16-17228330-C-T
gnomAD v3:
16-17134473-C-T
gnomAD v4:
16-17134473-C-T
PubMed:
PMID:25363760
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17134473C>T , CM000678.2:g.17134473C>T | GRCh38 |
| NC_000016.9:g.17228330C>T , CM000678.1:g.17228330C>T | GRCh37 |
| NC_000016.8:g.17135831C>T | NCBI36 |
| NG_015843.1:g.341409G>A | |
| NG_015843.2:g.341409G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.2027G>A MANE Select | ENSP00000261381.6:p.Arg676Gln | |
| ENST00000261381.6:c.2027G>A | ENSP00000261381.6:p.Arg676Gln | |
| NM_022166.3:c.2027G>A | NP_071449.1:p.Arg676Gln | |
| XM_011522574.1:c.2027G>A | XP_011520876.1:p.Arg676Gln | |
| XR_933140.1:n.5C>T | ||
| XR_933143.1:n.5C>T | ||
| XM_017023539.2:c.2027G>A | XP_016879028.1:p.Arg676Gln | |
| XM_017023540.2:c.2027G>A | XP_016879029.1:p.Arg676Gln | |
| NM_022166.4:c.2027G>A MANE Select | NP_071449.1:p.Arg676Gln |