Linked Data
ClinVar Variation Id:
346525
dbSNP Id:
rs528276006
gnomAD v2:
3-70015969-C-T
gnomAD v3:
3-69966818-C-T
gnomAD v4:
3-69966818-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69966818C>T , CM000665.2:g.69966818C>T | GRCh38 |
| NC_000003.11:g.70015969C>T , CM000665.1:g.70015969C>T | GRCh37 |
| NC_000003.10:g.70098659C>T | NCBI36 |
| NG_011631.1:g.232337C>T , LRG_776:g.232337C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.*1570C>T | ENSP00000324443.5:n.*1570C>T | |
| ENST00000314589.10:c.*1570C>T | ENSP00000324443.5:n.*1570C>T | |
| ENST00000352241.9:c.*1570C>T MANE Select | ENSP00000295600.8:n.*1570C>T | |
| ENST00000394351.9:c.*1570C>T MANE Plus Clinical | ENSP00000377880.3:n.*1570C>T | |
| ENST00000448226.9:c.*1570C>T | ENSP00000391803.3:n.*1570C>T | |
| ENST00000642352.1:c.*1570C>T | ENSP00000494105.1:n.*1570C>T | |
| ENST00000328528.10:c.*1570C>T | ENSP00000327867.6:n.*1570C>T | |
| ENST00000352241.8:c.*1570C>T | ENSP00000295600.7:n.*1570C>T | |
| NM_000248.3:c.*1570C>T , LRG_776t1:c.*1570C>T | NP_000239.1:n.*1570C>T | |
| NM_001184967.1:c.*1570C>T | NP_001171896.1:n.*1570C>T | |
| NM_006722.2:c.*1570C>T | NP_006713.1:n.*1570C>T | |
| NM_198158.2:c.*1570C>T | NP_937801.1:n.*1570C>T | |
| NM_198159.2:c.*1570C>T | NP_937802.1:n.*1570C>T | |
| NM_198177.2:c.*1570C>T | NP_937820.1:n.*1570C>T | |
| NM_198178.2:c.*1570C>T | NP_937821.2:n.*1570C>T | |
| XM_005264754.1:c.*1570C>T | XP_005264811.1:n.*1570C>T | |
| XM_005264755.2:c.*1570C>T | XP_005264812.1:n.*1570C>T | |
| XM_006713164.2:c.*1570C>T | XP_006713227.1:n.*1570C>T | |
| XM_011533722.1:c.*1570C>T | XP_011532024.1:n.*1570C>T | |
| XM_011533723.1:c.*1570C>T | XP_011532025.1:n.*1570C>T | |
| XM_011533724.1:c.*1570C>T | XP_011532026.1:n.*1570C>T | |
| XM_011533725.1:c.*1570C>T | XP_011532027.1:n.*1570C>T | |
| XM_011533726.1:c.*1570C>T | XP_011532028.1:n.*1570C>T | |
| NM_001354604.1:c.*1570C>T | NP_001341533.1:n.*1570C>T | |
| NM_001354605.1:c.*1570C>T | NP_001341534.1:n.*1570C>T | |
| NM_001354606.1:c.*1570C>T | NP_001341535.1:n.*1570C>T | |
| NM_001354607.1:c.*1570C>T | NP_001341536.1:n.*1570C>T | |
| NM_001354608.1:c.*1570C>T | NP_001341537.1:n.*1570C>T | |
| NM_001184967.2:c.*1570C>T | NP_001171896.1:n.*1570C>T | |
| NM_001354604.2:c.*1570C>T MANE Select | NP_001341533.1:n.*1570C>T | |
| NM_001354605.2:c.*1570C>T | NP_001341534.1:n.*1570C>T | |
| NM_001354606.2:c.*1570C>T | NP_001341535.1:n.*1570C>T | |
| NM_001354607.2:c.*1570C>T | NP_001341536.1:n.*1570C>T | |
| NM_001354608.2:c.*1570C>T | NP_001341537.1:n.*1570C>T | |
| NM_198158.3:c.*1570C>T | NP_937801.1:n.*1570C>T | |
| NM_198159.3:c.*1570C>T | NP_937802.1:n.*1570C>T | |
| NM_198177.3:c.*1570C>T | NP_937820.1:n.*1570C>T | |
| NM_198178.3:c.*1570C>T | NP_937821.2:n.*1570C>T | |
| NM_000248.4:c.*1570C>T MANE Plus Clinical | NP_000239.1:n.*1570C>T | |
| NM_006722.3:c.*1570C>T | NP_006713.1:n.*1570C>T |