Linked Data
ClinVar Variation Id:
2911251
ClinVar RCV Id:
RCV003737500
dbSNP Id:
rs761790744
gnomAD v2:
16-1412337-G-T
gnomAD v3:
16-1362336-G-T
gnomAD v4:
16-1362336-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362336G>T , CM000678.2:g.1362336G>T | GRCh38 |
| NC_000016.9:g.1412337G>T , CM000678.1:g.1412337G>T | GRCh37 |
| NC_000016.8:g.1352338G>T | NCBI36 |
| NG_016985.1:g.15438G>T | |
| NG_033129.1:g.57369C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.625+16G>T | ||
| ENST00000529110.2:c.610+16G>T | ENSP00000435349.2:n.610+16G>T | |
| ENST00000529957.6:n.584+16G>T | ||
| ENST00000683366.1:c.*258+16G>T | ENSP00000507283.1:n.*258+16G>T | |
| ENST00000683887.1:c.574+16G>T | ENSP00000506886.1:n.574+16G>T | |
| ENST00000684100.1:n.520+16G>T | ||
| ENST00000684126.1:n.584+16G>T | ||
| ENST00000684688.1:n.1151+16G>T | ||
| ENST00000204679.9:c.526+16G>T MANE Select | ENSP00000204679.4:n.526+16G>T | |
| ENST00000204679.8:c.526+16G>T | ENSP00000204679.4:n.526+16G>T | |
| ENST00000527076.1:n.1558G>T | ||
| ENST00000527168.5:n.578G>T | ||
| ENST00000529957.5:n.625+16G>T | ||
| NM_032520.4:c.526+16G>T | NP_115909.1:n.526+16G>T | |
| XM_017023782.1:c.574+16G>T | XP_016879271.1:n.574+16G>T | |
| XM_017023783.1:c.166+16G>T | XP_016879272.1:n.166+16G>T | |
| NM_032520.5:c.526+16G>T MANE Select | NP_115909.1:n.526+16G>T |