Linked Data
ClinVar Variation Id:
1910434
dbSNP Id:
rs374442826
ExAC:
16:1412896 C / G
gnomAD v2:
16-1412896-C-G
gnomAD v3:
16-1362895-C-G
gnomAD v4:
16-1362895-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362895C>G , CM000678.2:g.1362895C>G | GRCh38 |
| NC_000016.9:g.1412896C>G , CM000678.1:g.1412896C>G | GRCh37 |
| NC_000016.8:g.1352897C>G | NCBI36 |
| NG_016985.1:g.15997C>G | |
| NG_033129.1:g.56810G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.911C>G | ||
| ENST00000529110.2:c.896C>G | ENSP00000435349.2:p.Thr299Arg | |
| ENST00000529957.6:n.870C>G | ||
| ENST00000683366.1:c.*544C>G | ENSP00000507283.1:n.*544C>G | |
| ENST00000683887.1:c.860C>G | ENSP00000506886.1:p.Thr287Arg | |
| ENST00000684100.1:n.806C>G | ||
| ENST00000684126.1:n.946C>G | ||
| ENST00000684688.1:n.1437C>G | ||
| ENST00000204679.9:c.812C>G MANE Select | ENSP00000204679.4:p.Thr271Arg | |
| ENST00000204679.8:c.812C>G | ENSP00000204679.4:p.Thr271Arg | |
| ENST00000527076.1:n.2035C>G | ||
| ENST00000527168.5:n.979C>G | ||
| ENST00000529957.5:n.911C>G | ||
| NM_032520.4:c.812C>G | NP_115909.1:p.Thr271Arg | |
| XM_017023782.1:c.860C>G | XP_016879271.1:p.Thr287Arg | |
| XM_017023783.1:c.452C>G | XP_016879272.1:p.Thr151Arg | |
| NM_032520.5:c.812C>G MANE Select | NP_115909.1:p.Thr271Arg |