Linked Data
ClinVar Variation Id:
636530
ClinVar RCV Id:
RCV000788384
dbSNP Id:
rs773543130
ExAC:
11:47354843 A / G
gnomAD v2:
11-47354843-A-G
gnomAD v3:
11-47333292-A-G
gnomAD v4:
11-47333292-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47333292A>G , CM000673.2:g.47333292A>G | GRCh38 |
| NC_000011.9:g.47354843A>G , CM000673.1:g.47354843A>G | GRCh37 |
| NC_000011.8:g.47311419A>G | NCBI36 |
| NG_007667.1:g.24411T>C , LRG_386:g.24411T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3232T>C MANE Select | ENSP00000442795.1:p.Trp1078Arg | |
| ENST00000256993.8:c.3232T>C | ENSP00000256993.5:p.Trp1078Arg | |
| ENST00000399249.6:c.3232T>C | ENSP00000382193.2:p.Trp1078Arg | |
| ENST00000545968.5:c.3232T>C | ENSP00000442795.1:p.Trp1078Arg | |
| NM_000256.3:c.3232T>C , LRG_386t1:c.3232T>C MANE Select | NP_000247.2:p.Trp1078Arg | |
| XM_011520117.1:c.3214T>C | XP_011518419.1:p.Trp1072Arg | |
| XM_011520118.1:c.3151T>C | XP_011518420.1:p.Trp1051Arg |