Linked Data
ClinVar Variation Id:
208878
dbSNP Id:
rs369717556
gnomAD v2:
X-153577258-C-T
gnomAD v3:
X-154348890-C-T
gnomAD v4:
X-154348890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348890C>T , CM000685.2:g.154348890C>T | GRCh38 |
| NC_000023.10:g.153577258C>T , CM000685.1:g.153577258C>T | GRCh37 |
| NC_000023.9:g.153230452C>T | NCBI36 |
| NG_011506.1:g.30749G>A | |
| NG_011506.2:g.30749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7879G>A | ENSP00000353467.4:p.Glu2627Lys | |
| ENST00000369850.10:c.7903G>A MANE Select | ENSP00000358866.3:p.Glu2635Lys | |
| ENST00000369856.8:c.7822G>A | ENSP00000358872.4:p.Glu2608Lys | |
| ENST00000422373.6:c.4684G>A | ENSP00000416926.2:p.Glu1562Lys | |
| ENST00000610817.5:c.7960G>A | ENSP00000480593.2:n.7960G>A | |
| ENST00000673639.2:c.280-200G>A | ||
| ENST00000676696.1:c.8182G>A | ENSP00000503392.1:n.8182G>A | |
| ENST00000678304.1:n.3621G>A | ||
| ENST00000344736.8:c.7783G>A | ENSP00000358863.3:p.Glu2595Lys | |
| ENST00000360319.8:c.7879G>A | ENSP00000353467.4:p.Glu2627Lys | |
| ENST00000369850.7:c.7903G>A | ENSP00000358866.3:p.Glu2635Lys | |
| ENST00000369856.7:c.7822G>A | ENSP00000358872.4:p.Glu2608Lys | |
| ENST00000420627.5:c.7859G>A | ENSP00000408921.1:n.7859G>A | |
| ENST00000422373.5:c.7879G>A | ENSP00000416926.1:p.Glu2627Lys | |
| ENST00000490936.5:n.5132G>A | ||
| ENST00000498411.1:n.68-60G>A | ||
| ENST00000610817.4:c.6907G>A | ENSP00000480593.1:p.Glu2303Lys | |
| NM_001110556.1:c.7903G>A | NP_001104026.1:p.Glu2635Lys | |
| NM_001456.3:c.7879G>A | NP_001447.2:p.Glu2627Lys | |
| XM_011531127.1:c.7807G>A | XP_011529429.1:p.Glu2603Lys | |
| XM_011531128.1:c.7783G>A | XP_011529430.1:p.Glu2595Lys | |
| XM_011531129.1:c.7729G>A | XP_011529431.1:p.Glu2577Lys | |
| XM_011531130.1:c.7705G>A | XP_011529432.1:p.Glu2569Lys | |
| XM_011531131.1:c.7702G>A | XP_011529433.1:p.Glu2568Lys | |
| NM_001110556.2:c.7903G>A MANE Select | NP_001104026.1:p.Glu2635Lys | |
| NM_001456.4:c.7879G>A | NP_001447.2:p.Glu2627Lys |