Linked Data
ClinVar Variation Id:
465010
dbSNP Id:
rs968230475
gnomAD v2:
X-153581251-C-G
gnomAD v3:
X-154352883-C-G
gnomAD v4:
X-154352883-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352883C>G , CM000685.2:g.154352883C>G | GRCh38 |
| NC_000023.10:g.153581251C>G , CM000685.1:g.153581251C>G | GRCh37 |
| NC_000023.9:g.153234445C>G | NCBI36 |
| NG_011506.1:g.26756G>C | |
| NG_011506.2:g.26756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6244G>C | ENSP00000353467.4:p.Val2082Leu | |
| ENST00000369850.10:c.6268G>C MANE Select | ENSP00000358866.3:p.Val2090Leu | |
| ENST00000369856.8:c.6187G>C | ENSP00000358872.4:p.Val2063Leu | |
| ENST00000422373.6:c.3161-208G>C | ENSP00000416926.2:n.3161-208G>C | |
| ENST00000610817.5:c.6325G>C | ENSP00000480593.2:n.6325G>C | |
| ENST00000673639.2:c.280-4193G>C | ||
| ENST00000676696.1:c.6547G>C | ENSP00000503392.1:n.6547G>C | |
| ENST00000678304.1:n.1447G>C | ||
| ENST00000344736.8:c.6148G>C | ENSP00000358863.3:p.Val2050Leu | |
| ENST00000360319.8:c.6244G>C | ENSP00000353467.4:p.Val2082Leu | |
| ENST00000369850.7:c.6268G>C | ENSP00000358866.3:p.Val2090Leu | |
| ENST00000369856.7:c.6187G>C | ENSP00000358872.4:p.Val2063Leu | |
| ENST00000415241.1:c.470G>C | ||
| ENST00000420627.5:c.6224G>C | ENSP00000408921.1:n.6224G>C | |
| ENST00000422373.5:c.6244G>C | ENSP00000416926.1:p.Val2082Leu | |
| ENST00000444578.1:c.211G>C | ENSP00000397824.1:p.Val71Leu | |
| ENST00000466325.1:n.483G>C | ||
| ENST00000490936.5:n.2257G>C | ||
| ENST00000498411.1:n.1G>C | ||
| ENST00000610817.4:c.5844+510G>C | ENSP00000480593.1:n.5844+510G>C | |
| NM_001110556.1:c.6268G>C | NP_001104026.1:p.Val2090Leu | |
| NM_001456.3:c.6244G>C | NP_001447.2:p.Val2082Leu | |
| XM_011531127.1:c.6172G>C | XP_011529429.1:p.Val2058Leu | |
| XM_011531128.1:c.6148G>C | XP_011529430.1:p.Val2050Leu | |
| XM_011531129.1:c.6094G>C | XP_011529431.1:p.Val2032Leu | |
| XM_011531130.1:c.6070G>C | XP_011529432.1:p.Val2024Leu | |
| XM_011531131.1:c.6067G>C | XP_011529433.1:p.Val2023Leu | |
| NM_001110556.2:c.6268G>C MANE Select | NP_001104026.1:p.Val2090Leu | |
| NM_001456.4:c.6244G>C | NP_001447.2:p.Val2082Leu |