Linked Data
ClinVar Variation Id:
3102992
ClinVar RCV Id:
RCV004388363
dbSNP Id:
rs201449696
ExAC:
11:67353899 A / C
gnomAD v2:
11-67353899-A-C
gnomAD v3:
11-67586428-A-C
gnomAD v4:
11-67586428-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586428A>C , CM000673.2:g.67586428A>C | GRCh38 |
| NC_000011.9:g.67353899A>C , CM000673.1:g.67353899A>C | GRCh37 |
| NC_000011.8:g.67110475A>C | NCBI36 |
| NG_012075.1:g.7834A>C , LRG_723:g.7834A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.376A>C | ENSP00000381604.1:p.Ile126Leu | |
| ENST00000398606.10:c.484A>C MANE Select | ENSP00000381607.3:p.Ile162Leu | |
| ENST00000646888.1:c.*200A>C | ENSP00000494477.1:n.*200A>C | |
| ENST00000398603.5:c.376A>C | ENSP00000381604.1:p.Ile126Leu | |
| ENST00000398606.7:c.484A>C | ENSP00000381607.3:p.Ile162Leu | |
| ENST00000467591.1:n.595A>C | ||
| ENST00000494593.1:n.1456A>C | ||
| ENST00000495996.1:c.210A>C | ENSP00000484686.1:p.Ter70Cys | |
| ENST00000498765.5:c.547A>C | ||
| NM_000852.3:c.484A>C , LRG_723t1:c.484A>C | NP_000843.1:p.Ile162Leu | |
| NM_000852.4:c.484A>C MANE Select | NP_000843.1:p.Ile162Leu |