Linked Data
dbSNP Id:
rs754860139
ExAC:
1:115226961 C / G
gnomAD v2:
1-115226961-C-G
gnomAD v4:
1-114684340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684340C>G , CM000663.2:g.114684340C>G | GRCh38 |
| NC_000001.10:g.115226961C>G , CM000663.1:g.115226961C>G | GRCh37 |
| NC_000001.9:g.115028484C>G | NCBI36 |
| NG_008012.1:g.16216G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.394G>C | ENSP00000358551.4:p.Val132Leu | |
| ENST00000520113.7:c.406G>C MANE Select | ENSP00000430075.3:p.Val136Leu | |
| ENST00000637080.1:c.409G>C | ENSP00000489753.1:p.Val137Leu | |
| ENST00000639077.1:n.71G>C | ||
| ENST00000369538.3:c.493G>C | ENSP00000358551.3:p.Val165Leu | |
| ENST00000485564.3:n.280G>C | ||
| ENST00000520113.6:c.505G>C | ENSP00000430075.2:p.Val169Leu | |
| NM_000036.2:c.505G>C | NP_000027.2:p.Val169Leu | |
| NM_001172626.1:c.493G>C | NP_001166097.1:p.Val165Leu | |
| NM_000036.3:c.406G>C MANE Select | NP_000027.3:p.Val136Leu | |
| NM_001172626.2:c.394G>C | NP_001166097.2:p.Val132Leu |