Linked Data
ClinVar Variation Id:
53817
dbSNP Id:
rs397508613
gnomAD v4:
7-117642542-G-A
PubMed:
PMID:20059485
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642542G>A , CM000669.2:g.117642542G>A | GRCh38 |
| NC_000007.13:g.117282596G>A , CM000669.1:g.117282596G>A | GRCh37 |
| NC_000007.12:g.117069832G>A | NCBI36 |
| NG_016465.4:g.181759G>A , LRG_663:g.181759G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*31G>A | ENSP00000497673.2:n.*31G>A | |
| ENST00000647978.2:c.*3536G>A | ENSP00000497658.1:n.*3536G>A | |
| ENST00000649781.2:c.3639G>A | ENSP00000497203.1:p.Trp1213Ter | |
| ENST00000685018.2:c.3822G>A | ENSP00000510194.2:p.Trp1274Ter | |
| ENST00000687278.2:c.*475G>A | ENSP00000509593.2:n.*475G>A | |
| ENST00000699585.1:c.*31G>A | ENSP00000514456.1:n.*31G>A | |
| ENST00000699598.1:c.3822G>A | ENSP00000514467.1:p.Trp1274Ter | |
| ENST00000699599.1:c.3822G>A | ENSP00000514468.1:p.Trp1274Ter | |
| ENST00000699600.1:c.*483G>A | ENSP00000514469.1:n.*483G>A | |
| ENST00000699601.1:c.*2197G>A | ENSP00000514470.1:n.*2197G>A | |
| ENST00000699602.1:c.3816G>A | ENSP00000514471.1:p.Trp1272Ter | |
| ENST00000699604.1:c.*3646G>A | ENSP00000514472.1:n.*3646G>A | |
| ENST00000699605.1:c.3396G>A | ENSP00000514473.1:p.Trp1132Ter | |
| ENST00000685018.1:c.570G>A | ENSP00000510194.1:p.Trp190Ter | |
| ENST00000687278.1:c.1609G>A | ENSP00000509593.1:n.1609G>A | |
| ENST00000689011.1:c.404G>A | ||
| ENST00000003084.11:c.3822G>A MANE Select | ENSP00000003084.6:p.Trp1274Ter | |
| ENST00000647720.1:c.1272G>A | ||
| ENST00000649781.1:c.3639G>A | ENSP00000497203.1:p.Trp1213Ter | |
| ENST00000003084.10:c.3822G>A | ENSP00000003084.6:p.Trp1274Ter | |
| ENST00000426809.5:c.3732G>A | ENSP00000389119.1:p.Trp1244Ter | |
| NM_000492.3:c.3822G>A , LRG_663t1:c.3822G>A | NP_000483.3:p.Trp1274Ter | |
| XM_011515751.1:c.3912G>A | XP_011514053.1:p.Trp1304Ter | |
| XM_011515752.1:c.3912G>A | XP_011514054.1:p.Trp1304Ter | |
| XM_011515753.1:c.3579G>A | XP_011514055.1:p.Trp1193Ter | |
| XM_011515754.1:c.3579G>A | XP_011514056.1:p.Trp1193Ter | |
| NM_000492.4:c.3822G>A MANE Select | NP_000483.3:p.Trp1274Ter |