Linked Data
ClinVar Variation Id:
2085651
ClinVar RCV Id:
RCV003005173
dbSNP Id:
rs1196734452
gnomAD v2:
X-53285022-G-A
gnomAD v3:
X-53255840-G-A
gnomAD v4:
X-53255840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53255840G>A , CM000685.2:g.53255840G>A | GRCh38 |
| NC_000023.10:g.53285022G>A , CM000685.1:g.53285022G>A | GRCh37 |
| NC_000023.9:g.53301747G>A | NCBI36 |
| NG_021296.1:g.70501C>T | |
| NG_021296.2:g.70511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.1118C>T | ENSP00000516672.1:p.Ser373Leu | |
| ENST00000638630.1:c.248C>T | ENSP00000492390.1:p.Ser83Leu | |
| ENST00000640694.1:c.959C>T | ENSP00000492403.1:p.Ser320Leu | |
| ENST00000642864.1:c.959C>T MANE Select | ENSP00000495726.1:p.Ser320Leu | |
| ENST00000674510.1:c.959C>T | ENSP00000502054.1:p.Ser320Leu | |
| ENST00000675719.1:c.929C>T | ENSP00000501927.1:p.Ser310Leu | |
| ENST00000375365.2:c.344C>T | ENSP00000364514.2:p.Ser115Leu | |
| ENST00000396435.7:c.959C>T | ENSP00000379712.3:p.Ser320Leu | |
| NM_001111125.2:c.959C>T | NP_001104595.1:p.Ser320Leu | |
| NM_015075.1:c.344C>T | NP_055890.1:p.Ser115Leu | |
| XM_006724579.2:c.1055C>T | XP_006724642.1:p.Ser352Leu | |
| XM_006724580.2:c.344C>T | XP_006724643.1:p.Ser115Leu | |
| XM_006724581.2:c.1055C>T | XP_006724644.1:p.Ser352Leu | |
| XM_006724582.2:c.1055C>T | XP_006724645.1:p.Ser352Leu | |
| XM_006724583.2:c.1055C>T | XP_006724646.1:p.Ser352Leu | |
| XM_006724584.2:c.1055C>T | XP_006724647.1:p.Ser352Leu | |
| XM_011530772.1:c.281C>T | XP_011529074.1:p.Ser94Leu | |
| XM_011530773.1:c.248C>T | XP_011529075.1:p.Ser83Leu | |
| XM_011530774.1:c.1055C>T | XP_011529076.1:p.Ser352Leu | |
| XM_011530775.1:c.1055C>T | XP_011529077.1:p.Ser352Leu | |
| XM_011530776.1:c.1055C>T | XP_011529078.1:p.Ser352Leu | |
| XM_011530777.1:c.1055C>T | XP_011529079.1:p.Ser352Leu | |
| XR_938365.1:n.1282C>T | ||
| XM_006724579.3:c.1055C>T | XP_006724642.1:p.Ser352Leu | |
| XM_006724580.3:c.344C>T | XP_006724643.1:p.Ser115Leu | |
| XM_006724581.4:c.1055C>T | XP_006724644.1:p.Ser352Leu | |
| XM_006724582.4:c.1055C>T | XP_006724645.1:p.Ser352Leu | |
| XM_006724583.4:c.1055C>T | XP_006724646.1:p.Ser352Leu | |
| XM_006724584.3:c.1055C>T | XP_006724647.1:p.Ser352Leu | |
| XM_011530773.2:c.248C>T | XP_011529075.1:p.Ser83Leu | |
| XM_011530774.3:c.1055C>T | XP_011529076.1:p.Ser352Leu | |
| XM_011530776.2:c.1055C>T | XP_011529078.1:p.Ser352Leu | |
| XM_011530777.2:c.1055C>T | XP_011529079.1:p.Ser352Leu | |
| XM_017029359.2:c.929C>T | XP_016884848.1:p.Ser310Leu | |
| XM_017029360.1:c.461C>T | XP_016884849.1:p.Ser154Leu | |
| XR_938365.2:n.1276C>T | ||
| NM_001111125.3:c.959C>T MANE Select | NP_001104595.1:p.Ser320Leu | |
| NM_015075.2:c.344C>T | NP_055890.1:p.Ser115Leu |