Linked Data
ClinVar Variation Id:
213437
dbSNP Id:
rs782776511
ExAC:
X:153593249 C / T
gnomAD v2:
X-153593249-C-T
gnomAD v3:
X-154364881-C-T
gnomAD v4:
X-154364881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154364881C>T , CM000685.2:g.154364881C>T | GRCh38 |
| NC_000023.10:g.153593249C>T , CM000685.1:g.153593249C>T | GRCh37 |
| NC_000023.9:g.153246443C>T | NCBI36 |
| NG_011506.1:g.14758G>A | |
| NG_011506.2:g.14758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.1768G>A | ENSP00000353467.4:p.Val590Ile | |
| ENST00000369850.10:c.1768G>A MANE Select | ENSP00000358866.3:p.Val590Ile | |
| ENST00000369856.8:c.1687G>A | ENSP00000358872.4:p.Val563Ile | |
| ENST00000422373.6:c.1768G>A | ENSP00000416926.2:p.Val590Ile | |
| ENST00000610817.5:c.1825G>A | ENSP00000480593.2:n.1825G>A | |
| ENST00000673639.2:c.279+555G>A | ||
| ENST00000676696.1:c.2047G>A | ENSP00000503392.1:n.2047G>A | |
| ENST00000344736.8:c.1768G>A | ENSP00000358863.3:p.Val590Ile | |
| ENST00000360319.8:c.1768G>A | ENSP00000353467.4:p.Val590Ile | |
| ENST00000369850.7:c.1768G>A | ENSP00000358866.3:p.Val590Ile | |
| ENST00000369856.7:c.1687G>A | ENSP00000358872.4:p.Val563Ile | |
| ENST00000420627.5:c.1724G>A | ENSP00000408921.1:p.Arg575His | |
| ENST00000422373.5:c.1768G>A | ENSP00000416926.1:p.Val590Ile | |
| ENST00000465144.1:n.149G>A | ||
| ENST00000610817.4:c.1687G>A | ENSP00000480593.1:p.Val563Ile | |
| NM_001110556.1:c.1768G>A | NP_001104026.1:p.Val590Ile | |
| NM_001456.3:c.1768G>A | NP_001447.2:p.Val590Ile | |
| XM_011531127.1:c.1768G>A | XP_011529429.1:p.Val590Ile | |
| XM_011531128.1:c.1768G>A | XP_011529430.1:p.Val590Ile | |
| XM_011531129.1:c.1768G>A | XP_011529431.1:p.Val590Ile | |
| XM_011531130.1:c.1768G>A | XP_011529432.1:p.Val590Ile | |
| XM_011531131.1:c.1567G>A | XP_011529433.1:p.Val523Ile | |
| NM_001110556.2:c.1768G>A MANE Select | NP_001104026.1:p.Val590Ile | |
| NM_001456.4:c.1768G>A | NP_001447.2:p.Val590Ile |