Linked Data
ClinVar Variation Id:
1141413
ClinVar RCV Id:
RCV001478853
dbSNP Id:
rs765011069
ExAC:
11:64514734 C / T
gnomAD v2:
11-64514734-C-T
gnomAD v3:
11-64747262-C-T
gnomAD v4:
11-64747262-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64747262C>T , CM000673.2:g.64747262C>T | GRCh38 |
| NC_000011.9:g.64514734C>T , CM000673.1:g.64514734C>T | GRCh37 |
| NC_000011.8:g.64271310C>T | NCBI36 |
| NG_007574.1:g.3195G>A , LRG_100:g.3195G>A | |
| NG_013018.1:g.18454G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164139.4:c.2274G>A MANE Select | ENSP00000164139.3:p.Leu758= | |
| ENST00000164139.3:c.2274G>A | ENSP00000164139.3:p.Leu758= | |
| ENST00000377432.7:c.2010G>A | ENSP00000366650.3:p.Leu670= | |
| ENST00000483742.1:n.1627G>A | ||
| NM_001164716.1:c.2010G>A | NP_001158188.1:p.Leu670= | |
| NM_005609.2:c.2274G>A | NP_005600.1:p.Leu758= | |
| NM_005609.3:c.2274G>A | NP_005600.1:p.Leu758= | |
| NM_005609.4:c.2274G>A MANE Select | NP_005600.1:p.Leu758= |