Linked Data
ClinVar Variation Id:
227808
dbSNP Id:
rs542151771
ExAC:
11:17667395 G / A
gnomAD v2:
11-17667395-G-A
gnomAD v3:
11-17645848-G-A
gnomAD v4:
11-17645848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17645848G>A , CM000673.2:g.17645848G>A | GRCh38 |
| NC_000011.9:g.17667395G>A , CM000673.1:g.17667395G>A | GRCh37 |
| NC_000011.8:g.17623971G>A | NCBI36 |
| NG_033191.1:g.103476G>A | |
| NG_033191.2:g.103476G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000399391.7:c.8682G>A | ENSP00000382323.2:p.Leu2894= | |
| ENST00000399397.6:c.8646G>A MANE Select | ENSP00000382329.2:p.Leu2882= | |
| ENST00000399391.6:c.8682G>A | ENSP00000382323.2:p.Leu2894= | |
| ENST00000399397.5:c.8646G>A | ENSP00000382329.2:p.Leu2882= | |
| NM_001277269.1:c.8682G>A | NP_001264198.1:p.Leu2894= | |
| NM_001292063.1:c.8646G>A | NP_001278992.1:p.Leu2882= | |
| NM_001277269.2:c.8682G>A | NP_001264198.1:p.Leu2894= | |
| NM_001292063.2:c.8646G>A MANE Select | NP_001278992.1:p.Leu2882= |