Linked Data
ClinVar Variation Id:
325054
ClinVar RCV Id:
RCV002523010
dbSNP Id:
rs201123735
ExAC:
17:72916368 C / A
gnomAD v2:
17-72916368-C-A
gnomAD v3:
17-74920273-C-A
gnomAD v4:
17-74920273-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74920273C>A , CM000679.2:g.74920273C>A | GRCh38 |
| NC_000017.10:g.72916368C>A , CM000679.1:g.72916368C>A | GRCh37 |
| NC_000017.9:g.70427963C>A | NCBI36 |
| NG_007882.1:g.7984G>T | |
| NG_033062.1:g.999C>A | |
| NG_007882.2:g.7991G>T | |
| NG_033062.2:g.999C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.563G>T MANE Select | ENSP00000480279.1:p.Arg188Leu | |
| ENST00000579243.1:c.*162G>T | ENSP00000462568.1:n.*162G>T | |
| ENST00000614341.4:c.563G>T | ENSP00000480279.1:p.Arg188Leu | |
| NM_001282489.2:c.254G>T | NP_001269418.1:p.Arg85Leu | |
| NM_173477.4:c.563G>T | NP_775748.2:p.Arg188Leu | |
| XM_011524296.1:c.254G>T | XP_011522598.1:p.Arg85Leu | |
| XM_011524296.2:c.254G>T | XP_011522598.1:p.Arg85Leu | |
| NM_173477.5:c.563G>T MANE Select | NP_775748.2:p.Arg188Leu | |
| NM_001282489.3:c.254G>T | NP_001269418.1:p.Arg85Leu |