Linked Data
ClinVar Variation Id:
213521
dbSNP Id:
rs743546
ExAC:
X:153593574 C / T
gnomAD v2:
X-153593574-C-T
gnomAD v3:
X-154365206-C-T
gnomAD v4:
X-154365206-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154365206C>T , CM000685.2:g.154365206C>T | GRCh38 |
| NC_000023.10:g.153593574C>T , CM000685.1:g.153593574C>T | GRCh37 |
| NC_000023.9:g.153246768C>T | NCBI36 |
| NG_011506.1:g.14433G>A | |
| NG_011506.2:g.14433G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.1621G>A | ENSP00000353467.4:p.Glu541Lys | |
| ENST00000369850.10:c.1621G>A MANE Select | ENSP00000358866.3:p.Glu541Lys | |
| ENST00000369856.8:c.1540G>A | ENSP00000358872.4:p.Glu514Lys | |
| ENST00000422373.6:c.1621G>A | ENSP00000416926.2:p.Glu541Lys | |
| ENST00000610817.5:c.1678G>A | ENSP00000480593.2:n.1678G>A | |
| ENST00000673639.2:c.279+230G>A | ||
| ENST00000676696.1:c.1900G>A | ENSP00000503392.1:n.1900G>A | |
| ENST00000344736.8:c.1621G>A | ENSP00000358863.3:p.Glu541Lys | |
| ENST00000360319.8:c.1621G>A | ENSP00000353467.4:p.Glu541Lys | |
| ENST00000369850.7:c.1621G>A | ENSP00000358866.3:p.Glu541Lys | |
| ENST00000369856.7:c.1540G>A | ENSP00000358872.4:p.Glu514Lys | |
| ENST00000420627.5:c.1577G>A | ENSP00000408921.1:p.Arg526Gln | |
| ENST00000422373.5:c.1621G>A | ENSP00000416926.1:p.Glu541Lys | |
| ENST00000465144.1:n.2G>A | ||
| ENST00000610817.4:c.1540G>A | ENSP00000480593.1:p.Glu514Lys | |
| NM_001110556.1:c.1621G>A | NP_001104026.1:p.Glu541Lys | |
| NM_001456.3:c.1621G>A | NP_001447.2:p.Glu541Lys | |
| XM_011531127.1:c.1621G>A | XP_011529429.1:p.Glu541Lys | |
| XM_011531128.1:c.1621G>A | XP_011529430.1:p.Glu541Lys | |
| XM_011531129.1:c.1621G>A | XP_011529431.1:p.Glu541Lys | |
| XM_011531130.1:c.1621G>A | XP_011529432.1:p.Glu541Lys | |
| XM_011531131.1:c.1420G>A | XP_011529433.1:p.Glu474Lys | |
| NM_001110556.2:c.1621G>A MANE Select | NP_001104026.1:p.Glu541Lys | |
| NM_001456.4:c.1621G>A | NP_001447.2:p.Glu541Lys |