Linked Data
ClinVar Variation Id:
1511466
ClinVar RCV Id:
RCV002043338
dbSNP Id:
rs189974040
ExAC:
11:102826017 C / A
gnomAD v2:
11-102826017-C-A
gnomAD v3:
11-102955288-C-A
gnomAD v4:
11-102955288-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955288C>A , CM000673.2:g.102955288C>A | GRCh38 |
| NC_000011.9:g.102826017C>A , CM000673.1:g.102826017C>A | GRCh37 |
| NC_000011.8:g.102331227C>A | NCBI36 |
| NG_021404.1:g.5447G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.326G>T MANE Select | ENSP00000260302.3:p.Arg109Leu | |
| ENST00000260302.7:c.326G>T | ENSP00000260302.3:p.Arg109Leu | |
| ENST00000340273.4:c.326G>T | ENSP00000339672.4:p.Arg109Leu | |
| ENST00000615555.4:c.326G>T | ENSP00000482883.1:p.Arg109Leu | |
| NM_002427.3:c.326G>T | NP_002418.1:p.Arg109Leu | |
| NM_002427.4:c.326G>T MANE Select | NP_002418.1:p.Arg109Leu |