Linked Data
ClinVar Variation Id:
53505
dbSNP Id:
rs201386642
ExAC:
7:117234999 G / T
gnomAD v2:
7-117234999-G-T
gnomAD v3:
7-117594945-G-T
gnomAD v4:
7-117594945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117594945G>T , CM000669.2:g.117594945G>T | GRCh38 |
| NC_000007.13:g.117234999G>T , CM000669.1:g.117234999G>T | GRCh37 |
| NC_000007.12:g.117022235G>T | NCBI36 |
| NG_016465.4:g.134162G>T , LRG_663:g.134162G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2506G>T | ENSP00000497673.2:p.Asp836Tyr | |
| ENST00000647978.2:c.*2220G>T | ENSP00000497658.1:n.*2220G>T | |
| ENST00000649781.2:c.2323G>T | ENSP00000497203.1:p.Asp775Tyr | |
| ENST00000685018.2:c.2506G>T | ENSP00000510194.2:p.Asp836Tyr | |
| ENST00000687278.2:c.2506G>T | ENSP00000509593.2:p.Asp836Tyr | |
| ENST00000699585.1:c.2506G>T | ENSP00000514456.1:p.Asp836Tyr | |
| ENST00000699598.1:c.2506G>T | ENSP00000514467.1:p.Asp836Tyr | |
| ENST00000699599.1:c.2506G>T | ENSP00000514468.1:p.Asp836Tyr | |
| ENST00000699600.1:c.2506G>T | ENSP00000514469.1:p.Asp836Tyr | |
| ENST00000699601.1:c.*806G>T | ENSP00000514470.1:n.*806G>T | |
| ENST00000699602.1:c.2506G>T | ENSP00000514471.1:p.Asp836Tyr | |
| ENST00000699604.1:c.*2330G>T | ENSP00000514472.1:n.*2330G>T | |
| ENST00000699605.1:c.2080G>T | ENSP00000514473.1:p.Asp694Tyr | |
| ENST00000687278.1:c.97G>T | ENSP00000509593.1:p.Asp33Tyr | |
| ENST00000003084.11:c.2506G>T MANE Select | ENSP00000003084.6:p.Asp836Tyr | |
| ENST00000647720.1:c.156G>T | ||
| ENST00000647978.1:c.*2220G>T | ENSP00000497658.1:n.*2220G>T | |
| ENST00000648260.1:c.1402-7881G>T | ENSP00000497957.1:n.1402-7881G>T | |
| ENST00000649406.1:c.2323G>T | ENSP00000497965.1:p.Asp775Tyr | |
| ENST00000649781.1:c.2323G>T | ENSP00000497203.1:p.Asp775Tyr | |
| ENST00000003084.10:c.2506G>T | ENSP00000003084.6:p.Asp836Tyr | |
| ENST00000426809.5:c.2416G>T | ENSP00000389119.1:p.Asp806Tyr | |
| NM_000492.3:c.2506G>T , LRG_663t1:c.2506G>T | NP_000483.3:p.Asp836Tyr | |
| XM_011515751.1:c.2596G>T | XP_011514053.1:p.Asp866Tyr | |
| XM_011515752.1:c.2596G>T | XP_011514054.1:p.Asp866Tyr | |
| XM_011515753.1:c.2263G>T | XP_011514055.1:p.Asp755Tyr | |
| XM_011515754.1:c.2263G>T | XP_011514056.1:p.Asp755Tyr | |
| NM_000492.4:c.2506G>T MANE Select | NP_000483.3:p.Asp836Tyr |