Linked Data
ClinVar Variation Id:
578999
ClinVar RCV Id:
RCV000702170
dbSNP Id:
rs1414926823
gnomAD v2:
X-53264032-G-A
gnomAD v3:
X-53234850-G-A
gnomAD v4:
X-53234850-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53234850G>A , CM000685.2:g.53234850G>A | GRCh38 |
| NC_000023.10:g.53264032G>A , CM000685.1:g.53264032G>A | GRCh37 |
| NC_000023.9:g.53280757G>A | NCBI36 |
| NG_021296.1:g.91491C>T | |
| NG_021296.2:g.91501C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3995C>T | ENSP00000516672.1:p.Pro1332Leu | |
| ENST00000638521.1:c.1453+933C>T | ||
| ENST00000638869.1:c.962+933C>T | ||
| ENST00000639796.1:c.316+1472C>T | ENSP00000492252.1:n.316+1472C>T | |
| ENST00000640005.1:c.514+1472C>T | ENSP00000491293.1:n.514+1472C>T | |
| ENST00000640694.1:c.*321C>T | ENSP00000492403.1:n.*321C>T | |
| ENST00000642864.1:c.3836C>T MANE Select | ENSP00000495726.1:p.Pro1279Leu | |
| ENST00000674510.1:c.3836C>T | ENSP00000502054.1:p.Pro1279Leu | |
| ENST00000675719.1:c.3806C>T | ENSP00000501927.1:p.Pro1269Leu | |
| ENST00000375365.2:c.*321C>T | ENSP00000364514.2:n.*321C>T | |
| ENST00000396435.7:c.3836C>T | ENSP00000379712.3:p.Pro1279Leu | |
| NM_001111125.2:c.3836C>T | NP_001104595.1:p.Pro1279Leu | |
| NM_015075.1:c.*321C>T | NP_055890.1:n.*321C>T | |
| XM_006724579.2:c.3932C>T | XP_006724642.1:p.Pro1311Leu | |
| XM_006724580.2:c.3221C>T | XP_006724643.1:p.Pro1074Leu | |
| XM_006724581.2:c.3597+933C>T | XP_006724644.1:n.3597+933C>T | |
| XM_006724582.2:c.3597+933C>T | XP_006724645.1:n.3597+933C>T | |
| XM_006724583.2:c.3547+1472C>T | XP_006724646.1:n.3547+1472C>T | |
| XM_006724584.2:c.*321C>T | XP_006724647.1:n.*321C>T | |
| XM_011530772.1:c.3158C>T | XP_011529074.1:p.Pro1053Leu | |
| XM_011530773.1:c.3125C>T | XP_011529075.1:p.Pro1042Leu | |
| XM_011530775.1:c.3547+1472C>T | XP_011529077.1:n.3547+1472C>T | |
| XM_006724579.3:c.3932C>T | XP_006724642.1:p.Pro1311Leu | |
| XM_006724580.3:c.3221C>T | XP_006724643.1:p.Pro1074Leu | |
| XM_006724581.4:c.3597+933C>T | XP_006724644.1:n.3597+933C>T | |
| XM_006724582.4:c.3597+933C>T | XP_006724645.1:n.3597+933C>T | |
| XM_006724583.4:c.3547+1472C>T | XP_006724646.1:n.3547+1472C>T | |
| XM_006724584.3:c.*321C>T | XP_006724647.1:n.*321C>T | |
| XM_011530773.2:c.3125C>T | XP_011529075.1:p.Pro1042Leu | |
| XM_017029359.2:c.3806C>T | XP_016884848.1:p.Pro1269Leu | |
| XM_017029360.1:c.3338C>T | XP_016884849.1:p.Pro1113Leu | |
| NM_001111125.3:c.3836C>T MANE Select | NP_001104595.1:p.Pro1279Leu | |
| NM_015075.2:c.*321C>T | NP_055890.1:n.*321C>T |