Linked Data
ClinVar Variation Id:
53947
ClinVar RCV Id:
RCV000047135
RCV000505964
RCV000388068
RCV001004311
RCV002247439
RCV001009479
RCV002477161
RCV003466915
dbSNP Id:
rs374705585
ExAC:
7:117307145 C / T
gnomAD v2:
7-117307145-C-T
gnomAD v3:
7-117667091-C-T
gnomAD v4:
7-117667091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117667091C>T , CM000669.2:g.117667091C>T | GRCh38 |
| NC_000007.13:g.117307145C>T , CM000669.1:g.117307145C>T | GRCh37 |
| NC_000007.12:g.117094381C>T | NCBI36 |
| NG_016465.4:g.206308C>T , LRG_663:g.206308C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*635C>T | ENSP00000497673.2:n.*635C>T | |
| ENST00000647978.2:c.*4140C>T | ENSP00000497658.1:n.*4140C>T | |
| ENST00000649781.2:c.4243C>T | ENSP00000497203.1:p.Gln1415Ter | |
| ENST00000685018.2:c.*639C>T | ENSP00000510194.2:n.*639C>T | |
| ENST00000687278.2:c.*896-511C>T | ENSP00000509593.2:n.*896-511C>T | |
| ENST00000699585.1:c.*895C>T | ENSP00000514456.1:n.*895C>T | |
| ENST00000699598.1:c.*132C>T | ENSP00000514467.1:n.*132C>T | |
| ENST00000699599.1:c.*639C>T | ENSP00000514468.1:n.*639C>T | |
| ENST00000699600.1:c.*904-511C>T | ENSP00000514469.1:n.*904-511C>T | |
| ENST00000699601.1:c.*2801C>T | ENSP00000514470.1:n.*2801C>T | |
| ENST00000699602.1:c.4420C>T | ENSP00000514471.1:p.Gln1474Ter | |
| ENST00000699604.1:c.*4250C>T | ENSP00000514472.1:n.*4250C>T | |
| ENST00000699605.1:c.4000C>T | ENSP00000514473.1:p.Gln1334Ter | |
| ENST00000699606.1:n.3937C>T | ||
| ENST00000685018.1:c.1290C>T | ENSP00000510194.1:n.1290C>T | |
| ENST00000687278.1:c.2030-511C>T | ENSP00000509593.1:n.2030-511C>T | |
| ENST00000689011.1:c.1268C>T | ||
| ENST00000003084.11:c.4426C>T MANE Select | ENSP00000003084.6:p.Gln1476Ter | |
| ENST00000647720.1:c.1876C>T | ||
| ENST00000649781.1:c.4243C>T | ENSP00000497203.1:p.Gln1415Ter | |
| ENST00000003084.10:c.4426C>T | ENSP00000003084.6:p.Gln1476Ter | |
| ENST00000600166.1:c.368+1527C>T | ||
| NM_000492.3:c.4426C>T , LRG_663t1:c.4426C>T | NP_000483.3:p.Gln1476Ter | |
| XM_011515751.1:c.4516C>T | XP_011514053.1:p.Gln1506Ter | |
| XM_011515753.1:c.4183C>T | XP_011514055.1:p.Gln1395Ter | |
| XM_011515754.1:c.4183C>T | XP_011514056.1:p.Gln1395Ter | |
| NM_000492.4:c.4426C>T MANE Select | NP_000483.3:p.Gln1476Ter |