Linked Data
ClinVar Variation Id:
2055743
ClinVar RCV Id:
RCV002947325
dbSNP Id:
rs576161172
gnomAD v2:
1-115216301-C-G
gnomAD v3:
1-114673680-C-G
gnomAD v4:
1-114673680-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114673680C>G , CM000663.2:g.114673680C>G | GRCh38 |
| NC_000001.10:g.115216301C>G , CM000663.1:g.115216301C>G | GRCh37 |
| NC_000001.9:g.115017824C>G | NCBI36 |
| NG_008012.1:g.26876G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.2032G>C | ENSP00000358551.4:p.Val678Leu | |
| ENST00000520113.7:c.2044G>C MANE Select | ENSP00000430075.3:p.Val682Leu | |
| ENST00000637080.1:c.1827G>C | ENSP00000489753.1:n.1827G>C | |
| ENST00000638214.1:n.1157G>C | ||
| ENST00000639077.1:n.1566G>C | ||
| ENST00000639274.1:n.674G>C | ||
| ENST00000369538.3:c.2131G>C | ENSP00000358551.3:p.Val711Leu | |
| ENST00000520113.6:c.2143G>C | ENSP00000430075.2:p.Val715Leu | |
| NM_000036.2:c.2143G>C | NP_000027.2:p.Val715Leu | |
| NM_001172626.1:c.2131G>C | NP_001166097.1:p.Val711Leu | |
| NM_000036.3:c.2044G>C MANE Select | NP_000027.3:p.Val682Leu | |
| NM_001172626.2:c.2032G>C | NP_001166097.2:p.Val678Leu |