Linked Data
ClinVar Variation Id:
53709
dbSNP Id:
rs397508533
ExAC:
7:117251789 G / C
gnomAD v2:
7-117251789-G-C
gnomAD v4:
7-117611735-G-C
PubMed:
PMID:21416780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611735G>C , CM000669.2:g.117611735G>C | GRCh38 |
| NC_000007.13:g.117251789G>C , CM000669.1:g.117251789G>C | GRCh37 |
| NC_000007.12:g.117039025G>C | NCBI36 |
| NG_016465.4:g.150952G>C , LRG_663:g.150952G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3294G>C | ENSP00000497673.2:p.Trp1098Cys | |
| ENST00000647978.2:c.*3008G>C | ENSP00000497658.1:n.*3008G>C | |
| ENST00000649781.2:c.3111G>C | ENSP00000497203.1:p.Trp1037Cys | |
| ENST00000685018.2:c.3294G>C | ENSP00000510194.2:p.Trp1098Cys | |
| ENST00000687278.2:c.3294G>C | ENSP00000509593.2:p.Trp1098Cys | |
| ENST00000699585.1:c.3294G>C | ENSP00000514456.1:p.Trp1098Cys | |
| ENST00000699598.1:c.3294G>C | ENSP00000514467.1:p.Trp1098Cys | |
| ENST00000699599.1:c.3294G>C | ENSP00000514468.1:p.Trp1098Cys | |
| ENST00000699600.1:c.3294G>C | ENSP00000514469.1:p.Trp1098Cys | |
| ENST00000699601.1:c.*1594G>C | ENSP00000514470.1:n.*1594G>C | |
| ENST00000699602.1:c.3294G>C | ENSP00000514471.1:p.Trp1098Cys | |
| ENST00000699604.1:c.*3118G>C | ENSP00000514472.1:n.*3118G>C | |
| ENST00000699605.1:c.2868G>C | ENSP00000514473.1:p.Trp956Cys | |
| ENST00000685018.1:c.42G>C | ENSP00000510194.1:p.Trp14Cys | |
| ENST00000687278.1:c.885G>C | ENSP00000509593.1:p.Trp295Cys | |
| ENST00000003084.11:c.3294G>C MANE Select | ENSP00000003084.6:p.Trp1098Cys | |
| ENST00000647720.1:c.944G>C | ||
| ENST00000648260.1:c.2076G>C | ENSP00000497957.1:p.Trp692Cys | |
| ENST00000649406.1:c.3111G>C | ENSP00000497965.1:p.Trp1037Cys | |
| ENST00000649781.1:c.3111G>C | ENSP00000497203.1:p.Trp1037Cys | |
| ENST00000003084.10:c.3294G>C | ENSP00000003084.6:p.Trp1098Cys | |
| ENST00000426809.5:c.3204G>C | ENSP00000389119.1:p.Trp1068Cys | |
| ENST00000468795.1:c.119G>C | ||
| NM_000492.3:c.3294G>C , LRG_663t1:c.3294G>C | NP_000483.3:p.Trp1098Cys | |
| XM_011515751.1:c.3384G>C | XP_011514053.1:p.Trp1128Cys | |
| XM_011515752.1:c.3384G>C | XP_011514054.1:p.Trp1128Cys | |
| XM_011515753.1:c.3051G>C | XP_011514055.1:p.Trp1017Cys | |
| XM_011515754.1:c.3051G>C | XP_011514056.1:p.Trp1017Cys | |
| NM_000492.4:c.3294G>C MANE Select | NP_000483.3:p.Trp1098Cys |