Linked Data
ClinVar Variation Id:
1477730
dbSNP Id:
rs782531514
ExAC:
X:53285131 G / T
gnomAD v2:
X-53285131-G-T
gnomAD v4:
X-53255949-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53255949G>T , CM000685.2:g.53255949G>T | GRCh38 |
| NC_000023.10:g.53285131G>T , CM000685.1:g.53285131G>T | GRCh37 |
| NC_000023.9:g.53301856G>T | NCBI36 |
| NG_021296.1:g.70392C>A | |
| NG_021296.2:g.70402C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.1009C>A | ENSP00000516672.1:p.Pro337Thr | |
| ENST00000638630.1:c.139C>A | ENSP00000492390.1:p.Pro47Thr | |
| ENST00000640694.1:c.850C>A | ENSP00000492403.1:p.Pro284Thr | |
| ENST00000642864.1:c.850C>A MANE Select | ENSP00000495726.1:p.Pro284Thr | |
| ENST00000674510.1:c.850C>A | ENSP00000502054.1:p.Pro284Thr | |
| ENST00000675719.1:c.820C>A | ENSP00000501927.1:p.Pro274Thr | |
| ENST00000375365.2:c.235C>A | ENSP00000364514.2:p.Pro79Thr | |
| ENST00000396435.7:c.850C>A | ENSP00000379712.3:p.Pro284Thr | |
| NM_001111125.2:c.850C>A | NP_001104595.1:p.Pro284Thr | |
| NM_015075.1:c.235C>A | NP_055890.1:p.Pro79Thr | |
| XM_006724579.2:c.946C>A | XP_006724642.1:p.Pro316Thr | |
| XM_006724580.2:c.235C>A | XP_006724643.1:p.Pro79Thr | |
| XM_006724581.2:c.946C>A | XP_006724644.1:p.Pro316Thr | |
| XM_006724582.2:c.946C>A | XP_006724645.1:p.Pro316Thr | |
| XM_006724583.2:c.946C>A | XP_006724646.1:p.Pro316Thr | |
| XM_006724584.2:c.946C>A | XP_006724647.1:p.Pro316Thr | |
| XM_011530772.1:c.172C>A | XP_011529074.1:p.Pro58Thr | |
| XM_011530773.1:c.139C>A | XP_011529075.1:p.Pro47Thr | |
| XM_011530774.1:c.946C>A | XP_011529076.1:p.Pro316Thr | |
| XM_011530775.1:c.946C>A | XP_011529077.1:p.Pro316Thr | |
| XM_011530776.1:c.946C>A | XP_011529078.1:p.Pro316Thr | |
| XM_011530777.1:c.946C>A | XP_011529079.1:p.Pro316Thr | |
| XR_938365.1:n.1173C>A | ||
| XM_006724579.3:c.946C>A | XP_006724642.1:p.Pro316Thr | |
| XM_006724580.3:c.235C>A | XP_006724643.1:p.Pro79Thr | |
| XM_006724581.4:c.946C>A | XP_006724644.1:p.Pro316Thr | |
| XM_006724582.4:c.946C>A | XP_006724645.1:p.Pro316Thr | |
| XM_006724583.4:c.946C>A | XP_006724646.1:p.Pro316Thr | |
| XM_006724584.3:c.946C>A | XP_006724647.1:p.Pro316Thr | |
| XM_011530773.2:c.139C>A | XP_011529075.1:p.Pro47Thr | |
| XM_011530774.3:c.946C>A | XP_011529076.1:p.Pro316Thr | |
| XM_011530776.2:c.946C>A | XP_011529078.1:p.Pro316Thr | |
| XM_011530777.2:c.946C>A | XP_011529079.1:p.Pro316Thr | |
| XM_017029359.2:c.820C>A | XP_016884848.1:p.Pro274Thr | |
| XM_017029360.1:c.352C>A | XP_016884849.1:p.Pro118Thr | |
| XR_938365.2:n.1167C>A | ||
| NM_001111125.3:c.850C>A MANE Select | NP_001104595.1:p.Pro284Thr | |
| NM_015075.2:c.235C>A | NP_055890.1:p.Pro79Thr |