Linked Data
ClinVar Variation Id:
53685
ClinVar RCV Id:
RCV000219441
RCV000507471
RCV000660792
RCV000757802
RCV001009384
RCV002221194
RCV002228159
RCV001731338
RCV003474570
dbSNP Id:
rs202179988
ExAC:
7:117251703 C / T
gnomAD v2:
7-117251703-C-T
gnomAD v3:
7-117611649-C-T
gnomAD v4:
7-117611649-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611649C>T , CM000669.2:g.117611649C>T | GRCh38 |
| NC_000007.13:g.117251703C>T , CM000669.1:g.117251703C>T | GRCh37 |
| NC_000007.12:g.117038939C>T | NCBI36 |
| NG_016465.4:g.150866C>T , LRG_663:g.150866C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3208C>T | ENSP00000497673.2:p.Arg1070Trp | |
| ENST00000647978.2:c.*2922C>T | ENSP00000497658.1:n.*2922C>T | |
| ENST00000649781.2:c.3025C>T | ENSP00000497203.1:p.Arg1009Trp | |
| ENST00000685018.2:c.3208C>T | ENSP00000510194.2:p.Arg1070Trp | |
| ENST00000687278.2:c.3208C>T | ENSP00000509593.2:p.Arg1070Trp | |
| ENST00000699585.1:c.3208C>T | ENSP00000514456.1:p.Arg1070Trp | |
| ENST00000699598.1:c.3208C>T | ENSP00000514467.1:p.Arg1070Trp | |
| ENST00000699599.1:c.3208C>T | ENSP00000514468.1:p.Arg1070Trp | |
| ENST00000699600.1:c.3208C>T | ENSP00000514469.1:p.Arg1070Trp | |
| ENST00000699601.1:c.*1508C>T | ENSP00000514470.1:n.*1508C>T | |
| ENST00000699602.1:c.3208C>T | ENSP00000514471.1:p.Arg1070Trp | |
| ENST00000699604.1:c.*3032C>T | ENSP00000514472.1:n.*3032C>T | |
| ENST00000699605.1:c.2782C>T | ENSP00000514473.1:p.Arg928Trp | |
| ENST00000687278.1:c.799C>T | ENSP00000509593.1:p.Arg267Trp | |
| ENST00000003084.11:c.3208C>T MANE Select | ENSP00000003084.6:p.Arg1070Trp | |
| ENST00000647720.1:c.858C>T | ||
| ENST00000648260.1:c.1990C>T | ENSP00000497957.1:p.Arg664Trp | |
| ENST00000649406.1:c.3025C>T | ENSP00000497965.1:p.Arg1009Trp | |
| ENST00000649781.1:c.3025C>T | ENSP00000497203.1:p.Arg1009Trp | |
| ENST00000003084.10:c.3208C>T | ENSP00000003084.6:p.Arg1070Trp | |
| ENST00000426809.5:c.3118C>T | ENSP00000389119.1:p.Arg1040Trp | |
| ENST00000468795.1:c.33C>T | ||
| NM_000492.3:c.3208C>T , LRG_663t1:c.3208C>T | NP_000483.3:p.Arg1070Trp | |
| XM_011515751.1:c.3298C>T | XP_011514053.1:p.Arg1100Trp | |
| XM_011515752.1:c.3298C>T | XP_011514054.1:p.Arg1100Trp | |
| XM_011515753.1:c.2965C>T | XP_011514055.1:p.Arg989Trp | |
| XM_011515754.1:c.2965C>T | XP_011514056.1:p.Arg989Trp | |
| NM_000492.4:c.3208C>T MANE Select | NP_000483.3:p.Arg1070Trp |