Linked Data
ClinVar Variation Id:
1286591
ClinVar RCV Id:
RCV001710373
dbSNP Id:
rs16932455
gnomAD v2:
11-16040175-A-T
gnomAD v3:
11-16018629-A-T
gnomAD v4:
11-16018629-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16018629A>T , CM000673.2:g.16018629A>T | GRCh38 |
| NC_000011.9:g.16040175A>T , CM000673.1:g.16040175A>T | GRCh37 |
| NC_000011.8:g.15996751A>T | NCBI36 |
| NG_012881.1:g.462761T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683767.1:c.1624-3579T>A MANE Select | ENSP00000507545.1:n.1624-3579T>A | |
| ENST00000527619.6:c.1543-3579T>A | ENSP00000434455.2:n.1543-3579T>A | |
| ENST00000655819.1:c.1552-3579T>A | ENSP00000499737.1:n.1552-3579T>A | |
| ENST00000316399.10:c.1624-3579T>A | ENSP00000324948.6:n.1624-3579T>A | |
| ENST00000396356.7:c.1624-3579T>A | ENSP00000379644.3:n.1624-3579T>A | |
| ENST00000527619.5:c.1552-3579T>A | ENSP00000434455.1:n.1552-3579T>A | |
| ENST00000528252.5:c.1543-3579T>A | ENSP00000432134.1:n.1543-3579T>A | |
| ENST00000528429.5:c.1624-3579T>A | ENSP00000433233.1:n.1624-3579T>A | |
| NM_001145811.1:c.1543-3579T>A | NP_001139283.1:n.1543-3579T>A | |
| NM_001145819.1:c.1663-3579T>A | NP_001139291.1:n.1663-3579T>A | |
| NM_017508.2:c.1552-3579T>A | NP_059978.1:n.1552-3579T>A | |
| NM_033326.3:c.1624-3579T>A | NP_201583.2:n.1624-3579T>A | |
| NM_001145811.2:c.1543-3579T>A | NP_001139283.1:n.1543-3579T>A | |
| NM_001145819.2:c.1624-3579T>A | NP_001139291.2:n.1624-3579T>A | |
| NM_001367872.1:c.1501-3579T>A | NP_001354801.1:n.1501-3579T>A | |
| NM_001367873.1:c.1624-3579T>A MANE Select | NP_001354802.1:n.1624-3579T>A | |
| NM_017508.3:c.1543-3579T>A | NP_059978.2:n.1543-3579T>A |