Linked Data
ClinVar Variation Id:
7158
ClinVar RCV Id:
RCV000007578
RCV000506781
RCV000592350
RCV001004299
RCV001831538
RCV002496297
RCV003473028
dbSNP Id:
rs121909019
ExAC:
7:117251692 G / A
gnomAD v2:
7-117251692-G-A
gnomAD v3:
7-117611638-G-A
gnomAD v4:
7-117611638-G-A
COSMIC:
COSM3257310
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117611638G>A , CM000669.2:g.117611638G>A | GRCh38 |
| NC_000007.13:g.117251692G>A , CM000669.1:g.117251692G>A | GRCh37 |
| NC_000007.12:g.117038928G>A | NCBI36 |
| NG_016465.4:g.150855G>A , LRG_663:g.150855G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3197G>A | ENSP00000497673.2:p.Arg1066His | |
| ENST00000647978.2:c.*2911G>A | ENSP00000497658.1:n.*2911G>A | |
| ENST00000649781.2:c.3014G>A | ENSP00000497203.1:p.Arg1005His | |
| ENST00000685018.2:c.3197G>A | ENSP00000510194.2:p.Arg1066His | |
| ENST00000687278.2:c.3197G>A | ENSP00000509593.2:p.Arg1066His | |
| ENST00000699585.1:c.3197G>A | ENSP00000514456.1:p.Arg1066His | |
| ENST00000699598.1:c.3197G>A | ENSP00000514467.1:p.Arg1066His | |
| ENST00000699599.1:c.3197G>A | ENSP00000514468.1:p.Arg1066His | |
| ENST00000699600.1:c.3197G>A | ENSP00000514469.1:p.Arg1066His | |
| ENST00000699601.1:c.*1497G>A | ENSP00000514470.1:n.*1497G>A | |
| ENST00000699602.1:c.3197G>A | ENSP00000514471.1:p.Arg1066His | |
| ENST00000699604.1:c.*3021G>A | ENSP00000514472.1:n.*3021G>A | |
| ENST00000699605.1:c.2771G>A | ENSP00000514473.1:p.Arg924His | |
| ENST00000687278.1:c.788G>A | ENSP00000509593.1:p.Arg263His | |
| ENST00000003084.11:c.3197G>A MANE Select | ENSP00000003084.6:p.Arg1066His | |
| ENST00000647720.1:c.847G>A | ||
| ENST00000648260.1:c.1979G>A | ENSP00000497957.1:p.Arg660His | |
| ENST00000649406.1:c.3014G>A | ENSP00000497965.1:p.Arg1005His | |
| ENST00000649781.1:c.3014G>A | ENSP00000497203.1:p.Arg1005His | |
| ENST00000003084.10:c.3197G>A | ENSP00000003084.6:p.Arg1066His | |
| ENST00000426809.5:c.3107G>A | ENSP00000389119.1:p.Arg1036His | |
| ENST00000468795.1:c.22G>A | ||
| NM_000492.3:c.3197G>A , LRG_663t1:c.3197G>A | NP_000483.3:p.Arg1066His | |
| XM_011515751.1:c.3287G>A | XP_011514053.1:p.Arg1096His | |
| XM_011515752.1:c.3287G>A | XP_011514054.1:p.Arg1096His | |
| XM_011515753.1:c.2954G>A | XP_011514055.1:p.Arg985His | |
| XM_011515754.1:c.2954G>A | XP_011514056.1:p.Arg985His | |
| NM_000492.4:c.3197G>A MANE Select | NP_000483.3:p.Arg1066His |