Linked Data
dbSNP Id:
rs782096496
ExAC:
X:153581004 A / G
gnomAD v2:
X-153581004-A-G
gnomAD v4:
X-154352636-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352636A>G , CM000685.2:g.154352636A>G | GRCh38 |
| NC_000023.10:g.153581004A>G , CM000685.1:g.153581004A>G | GRCh37 |
| NC_000023.9:g.153234198A>G | NCBI36 |
| NG_011506.1:g.27003T>C | |
| NG_011506.2:g.27003T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6395T>C | ENSP00000353467.4:p.Val2132Ala | |
| ENST00000369850.10:c.6419T>C MANE Select | ENSP00000358866.3:p.Val2140Ala | |
| ENST00000369856.8:c.6338T>C | ENSP00000358872.4:p.Val2113Ala | |
| ENST00000422373.6:c.3200T>C | ENSP00000416926.2:p.Val1067Ala | |
| ENST00000610817.5:c.6476T>C | ENSP00000480593.2:n.6476T>C | |
| ENST00000673639.2:c.280-3946T>C | ||
| ENST00000676696.1:c.6698T>C | ENSP00000503392.1:n.6698T>C | |
| ENST00000678304.1:n.1598T>C | ||
| ENST00000344736.8:c.6299T>C | ENSP00000358863.3:p.Val2100Ala | |
| ENST00000360319.8:c.6395T>C | ENSP00000353467.4:p.Val2132Ala | |
| ENST00000369850.7:c.6419T>C | ENSP00000358866.3:p.Val2140Ala | |
| ENST00000369856.7:c.6338T>C | ENSP00000358872.4:p.Val2113Ala | |
| ENST00000415241.1:c.621T>C | ||
| ENST00000420627.5:c.6375T>C | ENSP00000408921.1:n.6375T>C | |
| ENST00000422373.5:c.6395T>C | ENSP00000416926.1:p.Val2132Ala | |
| ENST00000444578.1:c.322+136T>C | ENSP00000397824.1:n.322+136T>C | |
| ENST00000466325.1:n.730T>C | ||
| ENST00000474358.5:n.52T>C | ||
| ENST00000490936.5:n.2408T>C | ||
| ENST00000498411.1:n.67+181T>C | ||
| ENST00000610817.4:c.5845-686T>C | ENSP00000480593.1:n.5845-686T>C | |
| NM_001110556.1:c.6419T>C | NP_001104026.1:p.Val2140Ala | |
| NM_001456.3:c.6395T>C | NP_001447.2:p.Val2132Ala | |
| XM_011531127.1:c.6323T>C | XP_011529429.1:p.Val2108Ala | |
| XM_011531128.1:c.6299T>C | XP_011529430.1:p.Val2100Ala | |
| XM_011531129.1:c.6245T>C | XP_011529431.1:p.Val2082Ala | |
| XM_011531130.1:c.6221T>C | XP_011529432.1:p.Val2074Ala | |
| XM_011531131.1:c.6218T>C | XP_011529433.1:p.Val2073Ala | |
| NM_001110556.2:c.6419T>C MANE Select | NP_001104026.1:p.Val2140Ala | |
| NM_001456.4:c.6395T>C | NP_001447.2:p.Val2132Ala |