Linked Data
ClinVar Variation Id:
1693160
ClinVar RCV Id:
RCV002260420
dbSNP Id:
rs2151662303
gnomAD v4:
15-90999794-C-A
COSMIC:
COSM966633
MutSpliceDB:
CA393884838
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90999794C>A , CM000677.2:g.90999794C>A | GRCh38 |
| NC_000015.9:g.91543024C>A , CM000677.1:g.91543024C>A | GRCh37 |
| NC_000015.8:g.89344028C>A | NCBI36 |
| NG_012162.1:g.27810G>T , LRG_884:g.27810G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333371.8:c.1658-1G>T MANE Select | ENSP00000327650.4:n.1658-1G>T | |
| ENST00000643536.1:c.1658-1G>T | ENSP00000494429.1:n.1658-1G>T | |
| ENST00000647331.1:c.1658-1G>T | ENSP00000493953.1:n.1658-1G>T | |
| ENST00000333371.7:c.1658-1G>T | ENSP00000327650.3:n.1658-1G>T | |
| ENST00000535906.1:c.1577-1G>T | ENSP00000444053.1:n.1577-1G>T | |
| ENST00000554660.1:n.593-1G>T | ||
| ENST00000557470.5:n.147+696G>T | ||
| ENST00000574755.5:c.*1353-1G>T | ENSP00000460413.1:n.*1353-1G>T | |
| NM_001289148.1:c.1577-1G>T | NP_001276077.1:n.1577-1G>T | |
| NM_001289149.1:c.1385-1G>T | NP_001276078.1:n.1385-1G>T | |
| NM_018668.4:c.1658-1G>T , LRG_884t1:c.1658-1G>T | NP_061138.3:n.1658-1G>T | |
| XM_005254884.2:c.1580-1G>T | XP_005254941.1:n.1580-1G>T | |
| XM_005254887.1:c.1385-1G>T | XP_005254944.1:n.1385-1G>T | |
| XM_011521448.1:c.1385-1G>T | XP_011519750.1:n.1385-1G>T | |
| XM_011521449.1:c.1334-1G>T | XP_011519751.1:n.1334-1G>T | |
| XM_011521449.2:c.1334-1G>T | XP_011519751.1:n.1334-1G>T | |
| XM_017022075.2:c.1313-1G>T | XP_016877564.1:n.1313-1G>T | |
| XM_017022076.1:c.1313-1G>T | XP_016877565.1:n.1313-1G>T | |
| XR_001751213.2:n.2156-1G>T | ||
| NM_018668.5:c.1658-1G>T MANE Select | NP_061138.3:n.1658-1G>T |