Linked Data
ClinVar Variation Id:
1626019
ClinVar RCV Id:
RCV002110464
dbSNP Id:
rs201721807
ExAC:
11:118210554 G / A
gnomAD v2:
11-118210554-G-A
gnomAD v3:
11-118339839-G-A
gnomAD v4:
11-118339839-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118339839G>A , CM000673.2:g.118339839G>A | GRCh38 |
| NC_000011.9:g.118210554G>A , CM000673.1:g.118210554G>A | GRCh37 |
| NC_000011.8:g.117715764G>A | NCBI36 |
| NG_007566.1:g.496G>A , LRG_39:g.496G>A | |
| NG_009891.1:g.7906C>T , LRG_37:g.7906C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695666.1:n.829C>T | ||
| ENST00000695667.1:n.347C>T | ||
| ENST00000695668.1:n.2327C>T | ||
| ENST00000300692.9:c.342C>T MANE Select | ENSP00000300692.4:p.Ala114= | |
| ENST00000300692.8:c.342C>T | ENSP00000300692.4:p.Ala114= | |
| ENST00000392884.2:c.275-345C>T | ENSP00000376622.2:n.275-345C>T | |
| ENST00000526561.1:n.80-345C>T | ||
| ENST00000529594.5:c.123C>T | ENSP00000437335.1:p.Ala41= | |
| ENST00000534687.5:c.288-345C>T | ||
| NM_000732.4:c.342C>T , LRG_37t1:c.342C>T | NP_000723.1:p.Ala114= | |
| NM_001040651.1:c.275-345C>T | NP_001035741.1:n.275-345C>T | |
| NM_001040651.2:c.275-345C>T | NP_001035741.1:n.275-345C>T | |
| NM_000732.6:c.342C>T MANE Select | NP_000723.1:p.Ala114= |