Linked Data
ClinVar Variation Id:
161317
ClinVar RCV Id:
RCV000148692
RCV000157329
RCV000182546
RCV000206298
RCV000251088
RCV000659901
RCV000776119
RCV000844919
RCV001092826
dbSNP Id:
rs150759461
ExAC:
16:15872688 G / A
gnomAD v2:
16-15872688-G-A
gnomAD v3:
16-15778831-G-A
gnomAD v4:
16-15778831-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15778831G>A , CM000678.2:g.15778831G>A | GRCh38 |
| NC_000016.9:g.15872688G>A , CM000678.1:g.15872688G>A | GRCh37 |
| NC_000016.8:g.15780189G>A | NCBI36 |
| NG_009299.1:g.83200C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300036.6:c.739C>T MANE Select | ENSP00000300036.5:p.Arg247Cys | |
| ENST00000452625.7:c.760C>T MANE Plus Clinical | ENSP00000407821.2:p.Arg254Cys | |
| ENST00000571910.2:n.123C>T | ||
| ENST00000576790.7:c.739C>T | ENSP00000458731.1:p.Arg247Cys | |
| ENST00000652121.1:c.739C>T | ENSP00000498314.1:p.Arg247Cys | |
| ENST00000300036.5:c.739C>T | ENSP00000300036.5:p.Arg247Cys | |
| ENST00000396324.7:c.760C>T | ENSP00000379616.3:p.Arg254Cys | |
| ENST00000452625.6:c.760C>T | ENSP00000407821.2:p.Arg254Cys | |
| ENST00000570785.1:n.1161C>T | ||
| ENST00000571910.1:n.593C>T | ||
| ENST00000576790.6:c.739C>T | ENSP00000458731.1:p.Arg247Cys | |
| ENST00000616439.4:c.760C>T | ENSP00000484924.1:p.Arg254Cys | |
| NM_001040113.1:c.760C>T | NP_001035202.1:p.Arg254Cys | |
| NM_001040114.1:c.760C>T | NP_001035203.1:p.Arg254Cys | |
| NM_002474.2:c.739C>T | NP_002465.1:p.Arg247Cys | |
| NM_022844.2:c.739C>T | NP_074035.1:p.Arg247Cys | |
| XM_011522502.1:c.739C>T | XP_011520804.1:p.Arg247Cys | |
| XM_011522502.2:c.739C>T | XP_011520804.1:p.Arg247Cys | |
| XM_017023250.1:c.760C>T | XP_016878739.1:p.Arg254Cys | |
| NM_002474.3:c.739C>T MANE Select | NP_002465.1:p.Arg247Cys | |
| NM_001040113.2:c.760C>T MANE Plus Clinical | NP_001035202.1:p.Arg254Cys | |
| NM_001040114.2:c.760C>T | NP_001035203.1:p.Arg254Cys | |
| NM_022844.3:c.739C>T | NP_074035.1:p.Arg247Cys |