Linked Data
ClinVar Variation Id:
42588
ClinVar RCV Id:
RCV002490475
dbSNP Id:
rs1800565
gnomAD v2:
11-47361308-C-T
gnomAD v3:
11-47339757-C-T
gnomAD v4:
11-47339757-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47339757C>T , CM000673.2:g.47339757C>T | GRCh38 |
| NC_000011.9:g.47361308C>T , CM000673.1:g.47361308C>T | GRCh37 |
| NC_000011.8:g.47317884C>T | NCBI36 |
| NG_007667.1:g.17946G>A , LRG_386:g.17946G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.1961G>A MANE Select | ENSP00000442795.1:p.Arg654His | |
| ENST00000256993.8:c.1961G>A | ENSP00000256993.5:p.Arg654His | |
| ENST00000399249.6:c.1961G>A | ENSP00000382193.2:p.Arg654His | |
| ENST00000544791.1:c.1961G>A | ENSP00000444259.1:p.Arg654His | |
| ENST00000545968.5:c.1961G>A | ENSP00000442795.1:p.Arg654His | |
| NM_000256.3:c.1961G>A , LRG_386t1:c.1961G>A MANE Select | NP_000247.2:p.Arg654His | |
| XM_011520117.1:c.1943G>A | XP_011518419.1:p.Arg648His | |
| XM_011520118.1:c.1961G>A | XP_011518420.1:p.Arg654His |