Linked Data
ClinVar Variation Id:
1327496
ClinVar RCV Id:
RCV001789724
dbSNP Id:
rs1254271466
gnomAD v2:
20-31022234-G-T
gnomAD v4:
20-32434431-G-T
MutSpliceDB:
CA408557737
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.32434431G>T , CM000682.2:g.32434431G>T | GRCh38 |
| NC_000020.10:g.31022234G>T , CM000682.1:g.31022234G>T | GRCh37 |
| NC_000020.9:g.30485895G>T | NCBI36 |
| NG_027868.1:g.81088G>T , LRG_630:g.81088G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375687.10:c.1720-1G>T MANE Select | ENSP00000364839.4:n.1720-1G>T | |
| ENST00000644168.1:n.1262-1G>T | ||
| ENST00000646985.1:c.1537-1G>T | ENSP00000495053.1:n.1537-1G>T | |
| ENST00000647223.1:n.4072G>T | ||
| ENST00000651418.1:c.1720-1G>T | ENSP00000499150.1:n.1720-1G>T | |
| ENST00000306058.9:c.1705-1G>T | ENSP00000305119.5:n.1705-1G>T | |
| ENST00000375687.8:c.1720-1G>T | ENSP00000364839.4:n.1720-1G>T | |
| ENST00000613218.4:c.1720-1G>T | ENSP00000480487.1:n.1720-1G>T | |
| ENST00000620121.4:c.1720-1G>T | ENSP00000481978.1:n.1720-1G>T | |
| NM_015338.5:c.1720-1G>T , LRG_630t1:c.1720-1G>T | NP_056153.2:n.1720-1G>T | |
| XM_006723727.2:c.1717-1G>T | XP_006723790.1:n.1717-1G>T | |
| XM_006723728.2:c.1690-1G>T | XP_006723791.1:n.1690-1G>T | |
| XM_006723730.2:c.1636-1G>T | XP_006723793.1:n.1636-1G>T | |
| XM_006723732.2:c.1537-1G>T | XP_006723795.1:n.1537-1G>T | |
| XM_006723733.1:c.1036-1G>T | XP_006723796.1:n.1036-1G>T | |
| XM_011528647.1:c.1984-1G>T | XP_011526949.1:n.1984-1G>T | |
| XM_011528648.1:c.1981-1G>T | XP_011526950.1:n.1981-1G>T | |
| XM_011528649.1:c.1900-1G>T | XP_011526951.1:n.1900-1G>T | |
| XM_011528650.1:c.1831-1G>T | XP_011526952.1:n.1831-1G>T | |
| XM_011528651.1:c.1699-1G>T | XP_011526953.1:n.1699-1G>T | |
| XM_011528652.1:c.1636-1G>T | XP_011526954.1:n.1636-1G>T | |
| NM_001363734.1:c.1537-1G>T | NP_001350663.1:n.1537-1G>T | |
| XM_006723727.3:c.1717-1G>T | XP_006723790.1:n.1717-1G>T | |
| XM_006723728.3:c.1690-1G>T | XP_006723791.1:n.1690-1G>T | |
| XM_006723730.4:c.1636-1G>T | XP_006723793.1:n.1636-1G>T | |
| XM_011528648.3:c.1981-1G>T | XP_011526950.1:n.1981-1G>T | |
| XM_011528652.2:c.1636-1G>T | XP_011526954.1:n.1636-1G>T | |
| XM_017027704.1:c.1636-1G>T | XP_016883193.1:n.1636-1G>T | |
| XM_017027705.1:c.1636-1G>T | XP_016883194.1:n.1636-1G>T | |
| XM_017027706.1:c.1567-1G>T | XP_016883195.1:n.1567-1G>T | |
| NM_015338.6:c.1720-1G>T MANE Select | NP_056153.2:n.1720-1G>T |