Linked Data
ClinVar Variation Id:
2704530
ClinVar RCV Id:
RCV003528866
dbSNP Id:
rs1324224105
gnomAD v2:
8-11565845-C-T
gnomAD v3:
8-11708336-C-T
gnomAD v4:
8-11708336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11708336C>T , CM000670.2:g.11708336C>T | GRCh38 |
| NC_000008.10:g.11565845C>T , CM000670.1:g.11565845C>T | GRCh37 |
| NC_000008.9:g.11603254C>T | NCBI36 |
| NG_008177.2:g.36418C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622443.3:c.24C>T | ENSP00000482268.2:p.Ala8= | |
| ENST00000532059.6:c.24C>T MANE Select | ENSP00000435712.1:p.Ala8= | |
| ENST00000335135.8:c.24C>T | ENSP00000334458.4:p.Ala8= | |
| ENST00000526716.5:c.-6+4032C>T | ENSP00000435347.1:n.-6+4032C>T | |
| ENST00000526974.1:c.24C>T | ENSP00000473598.1:p.Ala8= | |
| ENST00000528027.1:c.24C>T | ENSP00000432278.1:p.Ala8= | |
| ENST00000528712.5:c.-6+7558C>T | ENSP00000435043.1:n.-6+7558C>T | |
| ENST00000532059.5:c.24C>T | ENSP00000435712.1:p.Ala8= | |
| ENST00000532977.1:c.24C>T | ENSP00000473671.1:p.Ala8= | |
| ENST00000622443.2:c.23C>T | ENSP00000482268.1:p.Pro8Leu | |
| NM_001308093.1:c.24C>T | NP_001295022.1:p.Ala8= | |
| NM_001308094.1:c.-6+7558C>T | NP_001295023.1:n.-6+7558C>T | |
| NM_002052.3:c.24C>T | NP_002043.2:p.Ala8= | |
| NM_002052.4:c.24C>T | NP_002043.2:p.Ala8= | |
| XM_005272385.3:c.24C>T | XP_005272442.1:p.Ala8= | |
| XM_005272386.1:c.24C>T | XP_005272443.1:p.Ala8= | |
| XM_006716248.1:c.24C>T | XP_006716311.1:p.Ala8= | |
| XM_011543817.1:c.24C>T | XP_011542119.1:p.Ala8= | |
| XM_011543818.1:c.24C>T | XP_011542120.1:p.Ala8= | |
| XM_005272385.4:c.24C>T | XP_005272442.1:p.Ala8= | |
| XM_011543817.3:c.24C>T | XP_011542119.1:p.Ala8= | |
| XM_011543818.2:c.24C>T | XP_011542120.1:p.Ala8= | |
| XM_017013312.2:c.24C>T | XP_016868801.1:p.Ala8= | |
| NM_001308093.3:c.24C>T MANE Select | NP_001295022.1:p.Ala8= | |
| NM_001308094.2:c.-6+7558C>T | NP_001295023.1:n.-6+7558C>T | |
| NM_001374273.1:c.-3+4032C>T | NP_001361202.1:n.-3+4032C>T | |
| NM_001374274.1:c.-3+322C>T | NP_001361203.1:n.-3+322C>T | |
| NM_002052.5:c.24C>T | NP_002043.2:p.Ala8= |