Linked Data
ClinVar Variation Id:
1552686
ClinVar RCV Id:
RCV002185054
dbSNP Id:
rs373394818
ExAC:
16:1412921 G / T
gnomAD v2:
16-1412921-G-T
gnomAD v3:
16-1362920-G-T
gnomAD v4:
16-1362920-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362920G>T , CM000678.2:g.1362920G>T | GRCh38 |
| NC_000016.9:g.1412921G>T , CM000678.1:g.1412921G>T | GRCh37 |
| NC_000016.8:g.1352922G>T | NCBI36 |
| NG_016985.1:g.16022G>T | |
| NG_033129.1:g.56785C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.922+14G>T | ||
| ENST00000529110.2:c.907+14G>T | ENSP00000435349.2:n.907+14G>T | |
| ENST00000529957.6:n.881+14G>T | ||
| ENST00000683366.1:c.*555+14G>T | ENSP00000507283.1:n.*555+14G>T | |
| ENST00000683887.1:c.871+14G>T | ENSP00000506886.1:n.871+14G>T | |
| ENST00000684100.1:n.817+14G>T | ||
| ENST00000684126.1:n.957+14G>T | ||
| ENST00000684688.1:n.1448+14G>T | ||
| ENST00000204679.9:c.823+14G>T MANE Select | ENSP00000204679.4:n.823+14G>T | |
| ENST00000204679.8:c.823+14G>T | ENSP00000204679.4:n.823+14G>T | |
| ENST00000527076.1:n.2046+14G>T | ||
| ENST00000527168.5:n.990+14G>T | ||
| NM_032520.4:c.823+14G>T | NP_115909.1:n.823+14G>T | |
| XM_017023782.1:c.871+14G>T | XP_016879271.1:n.871+14G>T | |
| XM_017023783.1:c.463+14G>T | XP_016879272.1:n.463+14G>T | |
| NM_032520.5:c.823+14G>T MANE Select | NP_115909.1:n.823+14G>T |