Linked Data
ClinVar Variation Id:
2587612
ClinVar RCV Id:
RCV003377971
dbSNP Id:
rs1562916038
gnomAD v4:
7-117614637-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614637T>C , CM000669.2:g.117614637T>C | GRCh38 |
| NC_000007.13:g.117254691T>C , CM000669.1:g.117254691T>C | GRCh37 |
| NC_000007.12:g.117041927T>C | NCBI36 |
| NG_016465.4:g.153854T>C , LRG_663:g.153854T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3392T>C | ENSP00000497673.2:p.Ile1131Thr | |
| ENST00000647978.2:c.*3106T>C | ENSP00000497658.1:n.*3106T>C | |
| ENST00000649781.2:c.3209T>C | ENSP00000497203.1:p.Ile1070Thr | |
| ENST00000685018.2:c.3392T>C | ENSP00000510194.2:p.Ile1131Thr | |
| ENST00000687278.2:c.3392T>C | ENSP00000509593.2:p.Ile1131Thr | |
| ENST00000699585.1:c.3392T>C | ENSP00000514456.1:p.Ile1131Thr | |
| ENST00000699598.1:c.3392T>C | ENSP00000514467.1:p.Ile1131Thr | |
| ENST00000699599.1:c.3392T>C | ENSP00000514468.1:p.Ile1131Thr | |
| ENST00000699600.1:c.3392T>C | ENSP00000514469.1:p.Ile1131Thr | |
| ENST00000699601.1:c.*1767T>C | ENSP00000514470.1:n.*1767T>C | |
| ENST00000699602.1:c.3386T>C | ENSP00000514471.1:p.Ile1129Thr | |
| ENST00000699604.1:c.*3216T>C | ENSP00000514472.1:n.*3216T>C | |
| ENST00000699605.1:c.2966T>C | ENSP00000514473.1:p.Ile989Thr | |
| ENST00000685018.1:c.140T>C | ENSP00000510194.1:p.Ile47Thr | |
| ENST00000687278.1:c.983T>C | ENSP00000509593.1:p.Ile328Thr | |
| ENST00000003084.11:c.3392T>C MANE Select | ENSP00000003084.6:p.Ile1131Thr | |
| ENST00000647720.1:c.1042T>C | ||
| ENST00000648260.1:c.2174T>C | ENSP00000497957.1:p.Ile725Thr | |
| ENST00000649406.1:c.3209T>C | ENSP00000497965.1:p.Ile1070Thr | |
| ENST00000649781.1:c.3209T>C | ENSP00000497203.1:p.Ile1070Thr | |
| ENST00000003084.10:c.3392T>C | ENSP00000003084.6:p.Ile1131Thr | |
| ENST00000426809.5:c.3302T>C | ENSP00000389119.1:p.Ile1101Thr | |
| ENST00000468795.1:c.217T>C | ||
| NM_000492.3:c.3392T>C , LRG_663t1:c.3392T>C | NP_000483.3:p.Ile1131Thr | |
| XM_011515751.1:c.3482T>C | XP_011514053.1:p.Ile1161Thr | |
| XM_011515752.1:c.3482T>C | XP_011514054.1:p.Ile1161Thr | |
| XM_011515753.1:c.3149T>C | XP_011514055.1:p.Ile1050Thr | |
| XM_011515754.1:c.3149T>C | XP_011514056.1:p.Ile1050Thr | |
| NM_000492.4:c.3392T>C MANE Select | NP_000483.3:p.Ile1131Thr |