Linked Data
ClinVar Variation Id:
358732
dbSNP Id:
rs1800104
ExAC:
7:117235052 T / C
gnomAD v2:
7-117235052-T-C
gnomAD v3:
7-117594998-T-C
gnomAD v4:
7-117594998-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117594998T>C , CM000669.2:g.117594998T>C | GRCh38 |
| NC_000007.13:g.117235052T>C , CM000669.1:g.117235052T>C | GRCh37 |
| NC_000007.12:g.117022288T>C | NCBI36 |
| NG_016465.4:g.134215T>C , LRG_663:g.134215T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2559T>C | ENSP00000497673.2:p.Ile853= | |
| ENST00000647978.2:c.*2273T>C | ENSP00000497658.1:n.*2273T>C | |
| ENST00000649781.2:c.2376T>C | ENSP00000497203.1:p.Ile792= | |
| ENST00000685018.2:c.2559T>C | ENSP00000510194.2:p.Ile853= | |
| ENST00000687278.2:c.2559T>C | ENSP00000509593.2:p.Ile853= | |
| ENST00000699585.1:c.2559T>C | ENSP00000514456.1:p.Ile853= | |
| ENST00000699598.1:c.2559T>C | ENSP00000514467.1:p.Ile853= | |
| ENST00000699599.1:c.2559T>C | ENSP00000514468.1:p.Ile853= | |
| ENST00000699600.1:c.2559T>C | ENSP00000514469.1:p.Ile853= | |
| ENST00000699601.1:c.*859T>C | ENSP00000514470.1:n.*859T>C | |
| ENST00000699602.1:c.2559T>C | ENSP00000514471.1:p.Ile853= | |
| ENST00000699604.1:c.*2383T>C | ENSP00000514472.1:n.*2383T>C | |
| ENST00000699605.1:c.2133T>C | ENSP00000514473.1:p.Ile711= | |
| ENST00000687278.1:c.150T>C | ENSP00000509593.1:p.Ile50= | |
| ENST00000003084.11:c.2559T>C MANE Select | ENSP00000003084.6:p.Ile853= | |
| ENST00000647720.1:c.209T>C | ||
| ENST00000648260.1:c.1402-7828T>C | ENSP00000497957.1:n.1402-7828T>C | |
| ENST00000649406.1:c.2376T>C | ENSP00000497965.1:p.Ile792= | |
| ENST00000649781.1:c.2376T>C | ENSP00000497203.1:p.Ile792= | |
| ENST00000003084.10:c.2559T>C | ENSP00000003084.6:p.Ile853= | |
| ENST00000426809.5:c.2469T>C | ENSP00000389119.1:p.Ile823= | |
| NM_000492.3:c.2559T>C , LRG_663t1:c.2559T>C | NP_000483.3:p.Ile853= | |
| XM_011515751.1:c.2649T>C | XP_011514053.1:p.Ile883= | |
| XM_011515752.1:c.2649T>C | XP_011514054.1:p.Ile883= | |
| XM_011515753.1:c.2316T>C | XP_011514055.1:p.Ile772= | |
| XM_011515754.1:c.2316T>C | XP_011514056.1:p.Ile772= | |
| NM_000492.4:c.2559T>C MANE Select | NP_000483.3:p.Ile853= |