Linked Data
ClinVar Variation Id:
1359569
ClinVar RCV Id:
RCV001872288
dbSNP Id:
rs774017237
ExAC:
16:1412052 T / C
gnomAD v2:
16-1412052-T-C
gnomAD v4:
16-1362051-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362051T>C , CM000678.2:g.1362051T>C | GRCh38 |
| NC_000016.9:g.1412052T>C , CM000678.1:g.1412052T>C | GRCh37 |
| NC_000016.8:g.1352053T>C | NCBI36 |
| NG_016985.1:g.15153T>C | |
| NG_033129.1:g.57654A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.430T>C | ||
| ENST00000529110.2:c.415T>C | ENSP00000435349.2:p.Trp139Arg | |
| ENST00000529957.6:n.389T>C | ||
| ENST00000683366.1:c.*63T>C | ENSP00000507283.1:n.*63T>C | |
| ENST00000683887.1:c.379T>C | ENSP00000506886.1:p.Trp127Arg | |
| ENST00000684100.1:n.325T>C | ||
| ENST00000684126.1:n.389T>C | ||
| ENST00000684688.1:n.956T>C | ||
| ENST00000204679.9:c.331T>C MANE Select | ENSP00000204679.4:p.Trp111Arg | |
| ENST00000204679.8:c.331T>C | ENSP00000204679.4:p.Trp111Arg | |
| ENST00000526820.5:c.*233T>C | ENSP00000434413.1:n.*233T>C | |
| ENST00000527076.1:n.1347T>C | ||
| ENST00000527168.5:n.367T>C | ||
| ENST00000529110.1:c.398T>C | ||
| ENST00000529957.5:n.430T>C | ||
| NM_032520.4:c.331T>C | NP_115909.1:p.Trp111Arg | |
| XM_017023782.1:c.379T>C | XP_016879271.1:p.Trp127Arg | |
| XM_017023783.1:c.-30T>C | XP_016879272.1:n.-30T>C | |
| NM_032520.5:c.331T>C MANE Select | NP_115909.1:p.Trp111Arg |