Linked Data
ClinVar Variation Id:
1186908
ClinVar RCV Id:
RCV001546166
dbSNP Id:
rs373530475
ExAC:
11:47364360 C / A
gnomAD v2:
11-47364360-C-A
gnomAD v3:
11-47342809-C-A
gnomAD v4:
11-47342809-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47342809C>A , CM000673.2:g.47342809C>A | GRCh38 |
| NC_000011.9:g.47364360C>A , CM000673.1:g.47364360C>A | GRCh37 |
| NC_000011.8:g.47320936C>A | NCBI36 |
| NG_007667.1:g.14894G>T , LRG_386:g.14894G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.1457+21G>T MANE Select | ENSP00000442795.1:n.1457+21G>T | |
| ENST00000256993.8:c.1457+21G>T | ENSP00000256993.5:n.1457+21G>T | |
| ENST00000399249.6:c.1457+21G>T | ENSP00000382193.2:n.1457+21G>T | |
| ENST00000544791.1:c.1457+21G>T | ENSP00000444259.1:n.1457+21G>T | |
| ENST00000545968.5:c.1457+21G>T | ENSP00000442795.1:n.1457+21G>T | |
| NM_000256.3:c.1457+21G>T , LRG_386t1:c.1457+21G>T MANE Select | NP_000247.2:n.1457+21G>T | |
| XM_011520117.1:c.1439+21G>T | XP_011518419.1:n.1439+21G>T | |
| XM_011520118.1:c.1457+21G>T | XP_011518420.1:n.1457+21G>T |