Linked Data
ClinVar Variation Id:
93156
dbSNP Id:
rs1800135
ExAC:
7:117306991 C / T
gnomAD v2:
7-117306991-C-T
gnomAD v3:
7-117666937-C-T
gnomAD v4:
7-117666937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117666937C>T , CM000669.2:g.117666937C>T | GRCh38 |
| NC_000007.13:g.117306991C>T , CM000669.1:g.117306991C>T | GRCh37 |
| NC_000007.12:g.117094227C>T | NCBI36 |
| NG_016465.4:g.206154C>T , LRG_663:g.206154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*481C>T | ENSP00000497673.2:n.*481C>T | |
| ENST00000647978.2:c.*3986C>T | ENSP00000497658.1:n.*3986C>T | |
| ENST00000649781.2:c.4089C>T | ENSP00000497203.1:p.Tyr1363= | |
| ENST00000685018.2:c.*485C>T | ENSP00000510194.2:n.*485C>T | |
| ENST00000687278.2:c.*896-665C>T | ENSP00000509593.2:n.*896-665C>T | |
| ENST00000699585.1:c.*741C>T | ENSP00000514456.1:n.*741C>T | |
| ENST00000699598.1:c.4265C>T | ENSP00000514467.1:p.Thr1422Met | |
| ENST00000699599.1:c.*485C>T | ENSP00000514468.1:n.*485C>T | |
| ENST00000699600.1:c.*904-665C>T | ENSP00000514469.1:n.*904-665C>T | |
| ENST00000699601.1:c.*2647C>T | ENSP00000514470.1:n.*2647C>T | |
| ENST00000699602.1:c.4266C>T | ENSP00000514471.1:p.Tyr1422= | |
| ENST00000699604.1:c.*4096C>T | ENSP00000514472.1:n.*4096C>T | |
| ENST00000699605.1:c.3846C>T | ENSP00000514473.1:p.Tyr1282= | |
| ENST00000699606.1:n.3783C>T | ||
| ENST00000685018.1:c.1136C>T | ENSP00000510194.1:n.1136C>T | |
| ENST00000687278.1:c.2030-665C>T | ENSP00000509593.1:n.2030-665C>T | |
| ENST00000689011.1:c.1114C>T | ||
| ENST00000003084.11:c.4272C>T MANE Select | ENSP00000003084.6:p.Tyr1424= | |
| ENST00000647720.1:c.1722C>T | ||
| ENST00000649781.1:c.4089C>T | ENSP00000497203.1:p.Tyr1363= | |
| ENST00000003084.10:c.4272C>T | ENSP00000003084.6:p.Tyr1424= | |
| ENST00000426809.5:c.4182C>T | ENSP00000389119.1:p.Tyr1394= | |
| ENST00000600166.1:c.368+1373C>T | ||
| NM_000492.3:c.4272C>T , LRG_663t1:c.4272C>T | NP_000483.3:p.Tyr1424= | |
| XM_011515751.1:c.4362C>T | XP_011514053.1:p.Tyr1454= | |
| XM_011515753.1:c.4029C>T | XP_011514055.1:p.Tyr1343= | |
| XM_011515754.1:c.4029C>T | XP_011514056.1:p.Tyr1343= | |
| NM_000492.4:c.4272C>T MANE Select | NP_000483.3:p.Tyr1424= |