Linked Data
ClinVar Variation Id:
1616424
ClinVar RCV Id:
RCV002084292
dbSNP Id:
rs771292799
ExAC:
11:47354129 C / T
gnomAD v2:
11-47354129-C-T
gnomAD v4:
11-47332578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332578C>T , CM000673.2:g.47332578C>T | GRCh38 |
| NC_000011.9:g.47354129C>T , CM000673.1:g.47354129C>T | GRCh37 |
| NC_000011.8:g.47310705C>T | NCBI36 |
| NG_007667.1:g.25125G>A , LRG_386:g.25125G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545968.6:c.3615G>A MANE Select | ENSP00000442795.1:p.Arg1205= | |
| ENST00000256993.8:c.3615G>A | ENSP00000256993.5:p.Arg1205= | |
| ENST00000399249.6:c.3615G>A | ENSP00000382193.2:p.Arg1205= | |
| ENST00000545968.5:c.3615G>A | ENSP00000442795.1:p.Arg1205= | |
| NM_000256.3:c.3615G>A , LRG_386t1:c.3615G>A MANE Select | NP_000247.2:p.Arg1205= | |
| XM_011520117.1:c.3597G>A | XP_011518419.1:p.Arg1199= | |
| XM_011520118.1:c.3534G>A | XP_011518420.1:p.Arg1178= |