Linked Data
ClinVar Variation Id:
1164617
ClinVar RCV Id:
RCV001510789
dbSNP Id:
rs1161354303
gnomAD v2:
X-53264200-G-A
gnomAD v3:
X-53235018-G-A
gnomAD v4:
X-53235018-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235018G>A , CM000685.2:g.53235018G>A | GRCh38 |
| NC_000023.10:g.53264200G>A , CM000685.1:g.53264200G>A | GRCh37 |
| NC_000023.9:g.53280925G>A | NCBI36 |
| NG_021296.1:g.91323C>T | |
| NG_021296.2:g.91333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3827C>T | ENSP00000516672.1:p.Pro1276Leu | |
| ENST00000638521.1:c.1453+765C>T | ||
| ENST00000638869.1:c.962+765C>T | ||
| ENST00000639796.1:c.316+1304C>T | ENSP00000492252.1:n.316+1304C>T | |
| ENST00000640005.1:c.514+1304C>T | ENSP00000491293.1:n.514+1304C>T | |
| ENST00000640694.1:c.*153C>T | ENSP00000492403.1:n.*153C>T | |
| ENST00000642864.1:c.3668C>T MANE Select | ENSP00000495726.1:p.Pro1223Leu | |
| ENST00000674510.1:c.3668C>T | ENSP00000502054.1:p.Pro1223Leu | |
| ENST00000675719.1:c.3638C>T | ENSP00000501927.1:p.Pro1213Leu | |
| ENST00000375365.2:c.*153C>T | ENSP00000364514.2:n.*153C>T | |
| ENST00000396435.7:c.3668C>T | ENSP00000379712.3:p.Pro1223Leu | |
| NM_001111125.2:c.3668C>T | NP_001104595.1:p.Pro1223Leu | |
| NM_015075.1:c.*153C>T | NP_055890.1:n.*153C>T | |
| XM_006724579.2:c.3764C>T | XP_006724642.1:p.Pro1255Leu | |
| XM_006724580.2:c.3053C>T | XP_006724643.1:p.Pro1018Leu | |
| XM_006724581.2:c.3597+765C>T | XP_006724644.1:n.3597+765C>T | |
| XM_006724582.2:c.3597+765C>T | XP_006724645.1:n.3597+765C>T | |
| XM_006724583.2:c.3547+1304C>T | XP_006724646.1:n.3547+1304C>T | |
| XM_006724584.2:c.*153C>T | XP_006724647.1:n.*153C>T | |
| XM_011530772.1:c.2990C>T | XP_011529074.1:p.Pro997Leu | |
| XM_011530773.1:c.2957C>T | XP_011529075.1:p.Pro986Leu | |
| XM_011530775.1:c.3547+1304C>T | XP_011529077.1:n.3547+1304C>T | |
| XM_006724579.3:c.3764C>T | XP_006724642.1:p.Pro1255Leu | |
| XM_006724580.3:c.3053C>T | XP_006724643.1:p.Pro1018Leu | |
| XM_006724581.4:c.3597+765C>T | XP_006724644.1:n.3597+765C>T | |
| XM_006724582.4:c.3597+765C>T | XP_006724645.1:n.3597+765C>T | |
| XM_006724583.4:c.3547+1304C>T | XP_006724646.1:n.3547+1304C>T | |
| XM_006724584.3:c.*153C>T | XP_006724647.1:n.*153C>T | |
| XM_011530773.2:c.2957C>T | XP_011529075.1:p.Pro986Leu | |
| XM_017029359.2:c.3638C>T | XP_016884848.1:p.Pro1213Leu | |
| XM_017029360.1:c.3170C>T | XP_016884849.1:p.Pro1057Leu | |
| NM_001111125.3:c.3668C>T MANE Select | NP_001104595.1:p.Pro1223Leu | |
| NM_015075.2:c.*153C>T | NP_055890.1:n.*153C>T |