Linked Data
ClinVar Variation Id:
432902
ClinVar RCV Id:
RCV000498854
dbSNP Id:
rs1302692296
gnomAD v2:
X-53264320-G-A
gnomAD v3:
X-53235138-G-A
gnomAD v4:
X-53235138-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235138G>A , CM000685.2:g.53235138G>A | GRCh38 |
| NC_000023.10:g.53264320G>A , CM000685.1:g.53264320G>A | GRCh37 |
| NC_000023.9:g.53281045G>A | NCBI36 |
| NG_021296.1:g.91203C>T | |
| NG_021296.2:g.91213C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3707C>T | ENSP00000516672.1:p.Pro1236Leu | |
| ENST00000638521.1:c.1453+645C>T | ||
| ENST00000638869.1:c.962+645C>T | ||
| ENST00000639796.1:c.316+1184C>T | ENSP00000492252.1:n.316+1184C>T | |
| ENST00000640005.1:c.514+1184C>T | ENSP00000491293.1:n.514+1184C>T | |
| ENST00000640436.1:n.528C>T | ||
| ENST00000640694.1:c.*33C>T | ENSP00000492403.1:n.*33C>T | |
| ENST00000642864.1:c.3548C>T MANE Select | ENSP00000495726.1:p.Pro1183Leu | |
| ENST00000674510.1:c.3548C>T | ENSP00000502054.1:p.Pro1183Leu | |
| ENST00000675719.1:c.3518C>T | ENSP00000501927.1:p.Pro1173Leu | |
| ENST00000375365.2:c.*33C>T | ENSP00000364514.2:n.*33C>T | |
| ENST00000396435.7:c.3548C>T | ENSP00000379712.3:p.Pro1183Leu | |
| NM_001111125.2:c.3548C>T | NP_001104595.1:p.Pro1183Leu | |
| NM_015075.1:c.*33C>T | NP_055890.1:n.*33C>T | |
| XM_006724579.2:c.3644C>T | XP_006724642.1:p.Pro1215Leu | |
| XM_006724580.2:c.2933C>T | XP_006724643.1:p.Pro978Leu | |
| XM_006724581.2:c.3597+645C>T | XP_006724644.1:n.3597+645C>T | |
| XM_006724582.2:c.3597+645C>T | XP_006724645.1:n.3597+645C>T | |
| XM_006724583.2:c.3547+1184C>T | XP_006724646.1:n.3547+1184C>T | |
| XM_006724584.2:c.*33C>T | XP_006724647.1:n.*33C>T | |
| XM_011530772.1:c.2870C>T | XP_011529074.1:p.Pro957Leu | |
| XM_011530773.1:c.2837C>T | XP_011529075.1:p.Pro946Leu | |
| XM_011530775.1:c.3547+1184C>T | XP_011529077.1:n.3547+1184C>T | |
| XM_006724579.3:c.3644C>T | XP_006724642.1:p.Pro1215Leu | |
| XM_006724580.3:c.2933C>T | XP_006724643.1:p.Pro978Leu | |
| XM_006724581.4:c.3597+645C>T | XP_006724644.1:n.3597+645C>T | |
| XM_006724582.4:c.3597+645C>T | XP_006724645.1:n.3597+645C>T | |
| XM_006724583.4:c.3547+1184C>T | XP_006724646.1:n.3547+1184C>T | |
| XM_006724584.3:c.*33C>T | XP_006724647.1:n.*33C>T | |
| XM_011530773.2:c.2837C>T | XP_011529075.1:p.Pro946Leu | |
| XM_017029359.2:c.3518C>T | XP_016884848.1:p.Pro1173Leu | |
| XM_017029360.1:c.3050C>T | XP_016884849.1:p.Pro1017Leu | |
| NM_001111125.3:c.3548C>T MANE Select | NP_001104595.1:p.Pro1183Leu | |
| NM_015075.2:c.*33C>T | NP_055890.1:n.*33C>T |