Linked Data
ClinVar Variation Id:
1121405
ClinVar RCV Id:
RCV001451686
dbSNP Id:
rs199607037
ExAC:
16:1412753 T / C
gnomAD v2:
16-1412753-T-C
gnomAD v3:
16-1362752-T-C
gnomAD v4:
16-1362752-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362752T>C , CM000678.2:g.1362752T>C | GRCh38 |
| NC_000016.9:g.1412753T>C , CM000678.1:g.1412753T>C | GRCh37 |
| NC_000016.8:g.1352754T>C | NCBI36 |
| NG_016985.1:g.15854T>C | |
| NG_033129.1:g.56953A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.840+10T>C | ||
| ENST00000529110.2:c.825+10T>C | ENSP00000435349.2:n.825+10T>C | |
| ENST00000529957.6:n.799+10T>C | ||
| ENST00000683366.1:c.*473+10T>C | ENSP00000507283.1:n.*473+10T>C | |
| ENST00000683887.1:c.789+10T>C | ENSP00000506886.1:n.789+10T>C | |
| ENST00000684100.1:n.735+10T>C | ||
| ENST00000684126.1:n.875+10T>C | ||
| ENST00000684688.1:n.1366+10T>C | ||
| ENST00000204679.9:c.741+10T>C MANE Select | ENSP00000204679.4:n.741+10T>C | |
| ENST00000204679.8:c.741+10T>C | ENSP00000204679.4:n.741+10T>C | |
| ENST00000527076.1:n.1964+10T>C | ||
| ENST00000527168.5:n.908+10T>C | ||
| ENST00000529957.5:n.840+10T>C | ||
| NM_032520.4:c.741+10T>C | NP_115909.1:n.741+10T>C | |
| XM_017023782.1:c.789+10T>C | XP_016879271.1:n.789+10T>C | |
| XM_017023783.1:c.381+10T>C | XP_016879272.1:n.381+10T>C | |
| NM_032520.5:c.741+10T>C MANE Select | NP_115909.1:n.741+10T>C |