Linked Data
ClinVar Variation Id:
2117936
ClinVar RCV Id:
RCV003030224
dbSNP Id:
rs773491094
ExAC:
11:47359224 G / T
gnomAD v2:
11-47359224-G-T
gnomAD v3:
11-47337673-G-T
gnomAD v4:
11-47337673-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47337673G>T , CM000673.2:g.47337673G>T | GRCh38 |
| NC_000011.9:g.47359224G>T , CM000673.1:g.47359224G>T | GRCh37 |
| NC_000011.8:g.47315800G>T | NCBI36 |
| NG_007667.1:g.20030C>A , LRG_386:g.20030C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.2413+17C>A MANE Select | ENSP00000442795.1:n.2413+17C>A | |
| ENST00000256993.8:c.2413+17C>A | ENSP00000256993.5:n.2413+17C>A | |
| ENST00000399249.6:c.2413+17C>A | ENSP00000382193.2:n.2413+17C>A | |
| ENST00000544791.1:c.2413+17C>A | ENSP00000444259.1:n.2413+17C>A | |
| ENST00000545968.5:c.2413+17C>A | ENSP00000442795.1:n.2413+17C>A | |
| NM_000256.3:c.2413+17C>A , LRG_386t1:c.2413+17C>A MANE Select | NP_000247.2:n.2413+17C>A | |
| XM_011520117.1:c.2395+17C>A | XP_011518419.1:n.2395+17C>A | |
| XM_011520118.1:c.2332+17C>A | XP_011518420.1:n.2332+17C>A |