Linked Data
ClinVar Variation Id:
1185976
ClinVar RCV Id:
RCV001544913
dbSNP Id:
rs1489138425
gnomAD v2:
X-53264304-C-G
gnomAD v3:
X-53235122-C-G
gnomAD v4:
X-53235122-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.53235122C>G , CM000685.2:g.53235122C>G | GRCh38 |
| NC_000023.10:g.53264304C>G , CM000685.1:g.53264304C>G | GRCh37 |
| NC_000023.9:g.53281029C>G | NCBI36 |
| NG_021296.1:g.91219G>C | |
| NG_021296.2:g.91229G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706952.1:c.3723G>C | ENSP00000516672.1:p.Pro1241= | |
| ENST00000638521.1:c.1453+661G>C | ||
| ENST00000638869.1:c.962+661G>C | ||
| ENST00000639796.1:c.316+1200G>C | ENSP00000492252.1:n.316+1200G>C | |
| ENST00000640005.1:c.514+1200G>C | ENSP00000491293.1:n.514+1200G>C | |
| ENST00000640436.1:n.544G>C | ||
| ENST00000640694.1:c.*49G>C | ENSP00000492403.1:n.*49G>C | |
| ENST00000642864.1:c.3564G>C MANE Select | ENSP00000495726.1:p.Pro1188= | |
| ENST00000674510.1:c.3564G>C | ENSP00000502054.1:p.Pro1188= | |
| ENST00000675719.1:c.3534G>C | ENSP00000501927.1:p.Pro1178= | |
| ENST00000375365.2:c.*49G>C | ENSP00000364514.2:n.*49G>C | |
| ENST00000396435.7:c.3564G>C | ENSP00000379712.3:p.Pro1188= | |
| NM_001111125.2:c.3564G>C | NP_001104595.1:p.Pro1188= | |
| NM_015075.1:c.*49G>C | NP_055890.1:n.*49G>C | |
| XM_006724579.2:c.3660G>C | XP_006724642.1:p.Pro1220= | |
| XM_006724580.2:c.2949G>C | XP_006724643.1:p.Pro983= | |
| XM_006724581.2:c.3597+661G>C | XP_006724644.1:n.3597+661G>C | |
| XM_006724582.2:c.3597+661G>C | XP_006724645.1:n.3597+661G>C | |
| XM_006724583.2:c.3547+1200G>C | XP_006724646.1:n.3547+1200G>C | |
| XM_006724584.2:c.*49G>C | XP_006724647.1:n.*49G>C | |
| XM_011530772.1:c.2886G>C | XP_011529074.1:p.Pro962= | |
| XM_011530773.1:c.2853G>C | XP_011529075.1:p.Pro951= | |
| XM_011530775.1:c.3547+1200G>C | XP_011529077.1:n.3547+1200G>C | |
| XM_006724579.3:c.3660G>C | XP_006724642.1:p.Pro1220= | |
| XM_006724580.3:c.2949G>C | XP_006724643.1:p.Pro983= | |
| XM_006724581.4:c.3597+661G>C | XP_006724644.1:n.3597+661G>C | |
| XM_006724582.4:c.3597+661G>C | XP_006724645.1:n.3597+661G>C | |
| XM_006724583.4:c.3547+1200G>C | XP_006724646.1:n.3547+1200G>C | |
| XM_006724584.3:c.*49G>C | XP_006724647.1:n.*49G>C | |
| XM_011530773.2:c.2853G>C | XP_011529075.1:p.Pro951= | |
| XM_017029359.2:c.3534G>C | XP_016884848.1:p.Pro1178= | |
| XM_017029360.1:c.3066G>C | XP_016884849.1:p.Pro1022= | |
| NM_001111125.3:c.3564G>C MANE Select | NP_001104595.1:p.Pro1188= | |
| NM_015075.2:c.*49G>C | NP_055890.1:n.*49G>C |