Linked Data
ClinVar Variation Id:
288135
dbSNP Id:
rs782779958
ExAC:
X:153581420 C / T
gnomAD v2:
X-153581420-C-T
gnomAD v3:
X-154353052-C-T
gnomAD v4:
X-154353052-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353052C>T , CM000685.2:g.154353052C>T | GRCh38 |
| NC_000023.10:g.153581420C>T , CM000685.1:g.153581420C>T | GRCh37 |
| NC_000023.9:g.153234614C>T | NCBI36 |
| NG_011506.1:g.26587G>A | |
| NG_011506.2:g.26587G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6151G>A | ENSP00000353467.4:p.Glu2051Lys | |
| ENST00000369850.10:c.6175G>A MANE Select | ENSP00000358866.3:p.Glu2059Lys | |
| ENST00000369856.8:c.6094G>A | ENSP00000358872.4:p.Glu2032Lys | |
| ENST00000422373.6:c.3161-377G>A | ENSP00000416926.2:n.3161-377G>A | |
| ENST00000610817.5:c.6232G>A | ENSP00000480593.2:n.6232G>A | |
| ENST00000673639.2:c.280-4362G>A | ||
| ENST00000676696.1:c.6454G>A | ENSP00000503392.1:n.6454G>A | |
| ENST00000678304.1:n.1354G>A | ||
| ENST00000344736.8:c.6055G>A | ENSP00000358863.3:p.Glu2019Lys | |
| ENST00000360319.8:c.6151G>A | ENSP00000353467.4:p.Glu2051Lys | |
| ENST00000369850.7:c.6175G>A | ENSP00000358866.3:p.Glu2059Lys | |
| ENST00000369856.7:c.6094G>A | ENSP00000358872.4:p.Glu2032Lys | |
| ENST00000415241.1:c.377G>A | ||
| ENST00000420627.5:c.6131G>A | ENSP00000408921.1:n.6131G>A | |
| ENST00000422373.5:c.6151G>A | ENSP00000416926.1:p.Glu2051Lys | |
| ENST00000444578.1:c.118G>A | ENSP00000397824.1:p.Glu40Lys | |
| ENST00000466325.1:n.314G>A | ||
| ENST00000490936.5:n.2164G>A | ||
| ENST00000610817.4:c.5844+341G>A | ENSP00000480593.1:n.5844+341G>A | |
| NM_001110556.1:c.6175G>A | NP_001104026.1:p.Glu2059Lys | |
| NM_001456.3:c.6151G>A | NP_001447.2:p.Glu2051Lys | |
| XM_011531127.1:c.6079G>A | XP_011529429.1:p.Glu2027Lys | |
| XM_011531128.1:c.6055G>A | XP_011529430.1:p.Glu2019Lys | |
| XM_011531129.1:c.6001G>A | XP_011529431.1:p.Glu2001Lys | |
| XM_011531130.1:c.5977G>A | XP_011529432.1:p.Glu1993Lys | |
| XM_011531131.1:c.5974G>A | XP_011529433.1:p.Glu1992Lys | |
| NM_001110556.2:c.6175G>A MANE Select | NP_001104026.1:p.Glu2059Lys | |
| NM_001456.4:c.6151G>A | NP_001447.2:p.Glu2051Lys |