Linked Data
ClinVar Variation Id:
1169407
ClinVar RCV Id:
RCV001520589
dbSNP Id:
rs1327209801
gnomAD v2:
X-53278007-C-T
gnomAD v3:
X-53248825-C-T
gnomAD v4:
X-53248825-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53248825C>T , CM000685.2:g.53248825C>T | GRCh38 |
| NC_000023.10:g.53278007C>T , CM000685.1:g.53278007C>T | GRCh37 |
| NC_000023.9:g.53294732C>T | NCBI36 |
| NG_021296.1:g.77516G>A | |
| NG_021296.2:g.77526G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.2514G>A | ENSP00000516672.1:p.Pro838= | |
| ENST00000638521.1:c.307G>A | ||
| ENST00000640694.1:c.2355G>A | ENSP00000492403.1:p.Pro785= | |
| ENST00000642864.1:c.2355G>A MANE Select | ENSP00000495726.1:p.Pro785= | |
| ENST00000674510.1:c.2355G>A | ENSP00000502054.1:p.Pro785= | |
| ENST00000675719.1:c.2325G>A | ENSP00000501927.1:p.Pro775= | |
| ENST00000375365.2:c.1740G>A | ENSP00000364514.2:p.Pro580= | |
| ENST00000396435.7:c.2355G>A | ENSP00000379712.3:p.Pro785= | |
| NM_001111125.2:c.2355G>A | NP_001104595.1:p.Pro785= | |
| NM_015075.1:c.1740G>A | NP_055890.1:p.Pro580= | |
| XM_006724579.2:c.2451G>A | XP_006724642.1:p.Pro817= | |
| XM_006724580.2:c.1740G>A | XP_006724643.1:p.Pro580= | |
| XM_006724581.2:c.2451G>A | XP_006724644.1:p.Pro817= | |
| XM_006724582.2:c.2451G>A | XP_006724645.1:p.Pro817= | |
| XM_006724583.2:c.2451G>A | XP_006724646.1:p.Pro817= | |
| XM_006724584.2:c.2451G>A | XP_006724647.1:p.Pro817= | |
| XM_011530772.1:c.1677G>A | XP_011529074.1:p.Pro559= | |
| XM_011530773.1:c.1644G>A | XP_011529075.1:p.Pro548= | |
| XM_011530774.1:c.2451G>A | XP_011529076.1:p.Pro817= | |
| XM_011530775.1:c.2451G>A | XP_011529077.1:p.Pro817= | |
| XM_011530776.1:c.2451G>A | XP_011529078.1:p.Pro817= | |
| XM_011530777.1:c.2451G>A | XP_011529079.1:p.Pro817= | |
| XR_938365.1:n.2678G>A | ||
| XM_006724579.3:c.2451G>A | XP_006724642.1:p.Pro817= | |
| XM_006724580.3:c.1740G>A | XP_006724643.1:p.Pro580= | |
| XM_006724581.4:c.2451G>A | XP_006724644.1:p.Pro817= | |
| XM_006724582.4:c.2451G>A | XP_006724645.1:p.Pro817= | |
| XM_006724583.4:c.2451G>A | XP_006724646.1:p.Pro817= | |
| XM_006724584.3:c.2451G>A | XP_006724647.1:p.Pro817= | |
| XM_011530773.2:c.1644G>A | XP_011529075.1:p.Pro548= | |
| XM_011530774.3:c.2451G>A | XP_011529076.1:p.Pro817= | |
| XM_011530776.2:c.2451G>A | XP_011529078.1:p.Pro817= | |
| XM_011530777.2:c.2451G>A | XP_011529079.1:p.Pro817= | |
| XM_017029359.2:c.2325G>A | XP_016884848.1:p.Pro775= | |
| XM_017029360.1:c.1857G>A | XP_016884849.1:p.Pro619= | |
| XR_938365.2:n.2672G>A | ||
| NM_001111125.3:c.2355G>A MANE Select | NP_001104595.1:p.Pro785= | |
| NM_015075.2:c.1740G>A | NP_055890.1:p.Pro580= |