Linked Data
ClinVar Variation Id:
67467
ClinVar RCV Id:
RCV000058195
RCV000685270
RCV001256912
RCV001664238
RCV001841740
RCV003298111
RCV002483098
dbSNP Id:
rs199473021
ExAC:
7:150644471 G / A
gnomAD v2:
7-150644471-G-A
gnomAD v3:
7-150947383-G-A
gnomAD v4:
7-150947383-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947383G>A , CM000669.2:g.150947383G>A | GRCh38 |
| NC_000007.13:g.150644471G>A , CM000669.1:g.150644471G>A | GRCh37 |
| NC_000007.12:g.150275404G>A | NCBI36 |
| NG_008916.1:g.35544C>T , LRG_288:g.35544C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3930C>T | ||
| ENST00000262186.10:c.3097C>T MANE Select | ENSP00000262186.5:p.Arg1033Trp | |
| ENST00000330883.9:c.2077C>T | ENSP00000328531.4:p.Arg693Trp | |
| ENST00000262186.9:c.3097C>T | ENSP00000262186.5:p.Arg1033Trp | |
| ENST00000330883.8:c.2077C>T | ENSP00000328531.4:p.Arg693Trp | |
| NM_000238.3:c.3097C>T , LRG_288t1:c.3097C>T | NP_000229.1:p.Arg1033Trp | |
| NM_172057.2:c.2077C>T , LRG_288t3:c.2077C>T | NP_742054.1:p.Arg693Trp | |
| XM_011516185.1:c.2797C>T | XP_011514487.1:p.Arg933Trp | |
| XM_011516185.2:c.2797C>T | XP_011514487.1:p.Arg933Trp | |
| XM_017012195.1:c.2947C>T | XP_016867684.1:p.Arg983Trp | |
| XM_017012196.1:c.2920C>T | XP_016867685.1:p.Arg974Trp | |
| NM_000238.4:c.3097C>T MANE Select | NP_000229.1:p.Arg1033Trp | |
| NM_172057.3:c.2077C>T | NP_742054.1:p.Arg693Trp |