Linked Data
ClinVar Variation Id:
21721
dbSNP Id:
rs193302855
ExAC:
16:1412610 A / G
gnomAD v2:
16-1412610-A-G
gnomAD v3:
16-1362609-A-G
gnomAD v4:
16-1362609-A-G
PubMed:
PMID:20301784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362609A>G , CM000678.2:g.1362609A>G | GRCh38 |
| NC_000016.9:g.1412610A>G , CM000678.1:g.1412610A>G | GRCh37 |
| NC_000016.8:g.1352611A>G | NCBI36 |
| NG_016985.1:g.15711A>G | |
| NG_033129.1:g.57096T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.709-2A>G | ||
| ENST00000529110.2:c.694-2A>G | ENSP00000435349.2:n.694-2A>G | |
| ENST00000529957.6:n.668-2A>G | ||
| ENST00000683366.1:c.*342-2A>G | ENSP00000507283.1:n.*342-2A>G | |
| ENST00000683887.1:c.658-2A>G | ENSP00000506886.1:n.658-2A>G | |
| ENST00000684100.1:n.604-2A>G | ||
| ENST00000684126.1:n.742A>G | ||
| ENST00000684688.1:n.1235-2A>G | ||
| ENST00000204679.9:c.610-2A>G MANE Select | ENSP00000204679.4:n.610-2A>G | |
| ENST00000204679.8:c.610-2A>G | ENSP00000204679.4:n.610-2A>G | |
| ENST00000527076.1:n.1831A>G | ||
| ENST00000527168.5:n.777-2A>G | ||
| ENST00000529957.5:n.709-2A>G | ||
| NM_032520.4:c.610-2A>G | NP_115909.1:n.610-2A>G | |
| XM_017023782.1:c.658-2A>G | XP_016879271.1:n.658-2A>G | |
| XM_017023783.1:c.250-2A>G | XP_016879272.1:n.250-2A>G | |
| NM_032520.5:c.610-2A>G MANE Select | NP_115909.1:n.610-2A>G |