Linked Data
dbSNP Id:
rs1004785229
gnomAD v2:
3-70016466-A-G
gnomAD v3:
3-69967315-A-G
gnomAD v4:
3-69967315-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69967315A>G , CM000665.2:g.69967315A>G | GRCh38 |
| NC_000003.11:g.70016466A>G , CM000665.1:g.70016466A>G | GRCh37 |
| NC_000003.10:g.70099156A>G | NCBI36 |
| NG_011631.1:g.232834A>G , LRG_776:g.232834A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.*2067A>G | ENSP00000324443.5:n.*2067A>G | |
| ENST00000314589.10:c.*2067A>G | ENSP00000324443.5:n.*2067A>G | |
| ENST00000352241.9:c.*2067A>G MANE Select | ENSP00000295600.8:n.*2067A>G | |
| ENST00000394351.9:c.*2067A>G MANE Plus Clinical | ENSP00000377880.3:n.*2067A>G | |
| ENST00000448226.9:c.*2067A>G | ENSP00000391803.3:n.*2067A>G | |
| ENST00000642352.1:c.*2067A>G | ENSP00000494105.1:n.*2067A>G | |
| ENST00000328528.10:c.*2067A>G | ENSP00000327867.6:n.*2067A>G | |
| ENST00000352241.8:c.*2067A>G | ENSP00000295600.7:n.*2067A>G | |
| NM_000248.3:c.*2067A>G , LRG_776t1:c.*2067A>G | NP_000239.1:n.*2067A>G | |
| NM_001184967.1:c.*2067A>G | NP_001171896.1:n.*2067A>G | |
| NM_006722.2:c.*2067A>G | NP_006713.1:n.*2067A>G | |
| NM_198158.2:c.*2067A>G | NP_937801.1:n.*2067A>G | |
| NM_198159.2:c.*2067A>G | NP_937802.1:n.*2067A>G | |
| NM_198177.2:c.*2067A>G | NP_937820.1:n.*2067A>G | |
| NM_198178.2:c.*2067A>G | NP_937821.2:n.*2067A>G | |
| XM_005264754.1:c.*2067A>G | XP_005264811.1:n.*2067A>G | |
| XM_005264755.2:c.*2067A>G | XP_005264812.1:n.*2067A>G | |
| XM_006713164.2:c.*2067A>G | XP_006713227.1:n.*2067A>G | |
| XM_011533722.1:c.*2067A>G | XP_011532024.1:n.*2067A>G | |
| XM_011533723.1:c.*2067A>G | XP_011532025.1:n.*2067A>G | |
| XM_011533724.1:c.*2067A>G | XP_011532026.1:n.*2067A>G | |
| XM_011533725.1:c.*2067A>G | XP_011532027.1:n.*2067A>G | |
| XM_011533726.1:c.*2067A>G | XP_011532028.1:n.*2067A>G | |
| NM_001354604.1:c.*2067A>G | NP_001341533.1:n.*2067A>G | |
| NM_001354605.1:c.*2067A>G | NP_001341534.1:n.*2067A>G | |
| NM_001354606.1:c.*2067A>G | NP_001341535.1:n.*2067A>G | |
| NM_001354607.1:c.*2067A>G | NP_001341536.1:n.*2067A>G | |
| NM_001354608.1:c.*2067A>G | NP_001341537.1:n.*2067A>G | |
| NM_001184967.2:c.*2067A>G | NP_001171896.1:n.*2067A>G | |
| NM_001354604.2:c.*2067A>G MANE Select | NP_001341533.1:n.*2067A>G | |
| NM_001354605.2:c.*2067A>G | NP_001341534.1:n.*2067A>G | |
| NM_001354606.2:c.*2067A>G | NP_001341535.1:n.*2067A>G | |
| NM_001354607.2:c.*2067A>G | NP_001341536.1:n.*2067A>G | |
| NM_001354608.2:c.*2067A>G | NP_001341537.1:n.*2067A>G | |
| NM_198158.3:c.*2067A>G | NP_937801.1:n.*2067A>G | |
| NM_198159.3:c.*2067A>G | NP_937802.1:n.*2067A>G | |
| NM_198177.3:c.*2067A>G | NP_937820.1:n.*2067A>G | |
| NM_198178.3:c.*2067A>G | NP_937821.2:n.*2067A>G | |
| NM_000248.4:c.*2067A>G MANE Plus Clinical | NP_000239.1:n.*2067A>G | |
| NM_006722.3:c.*2067A>G | NP_006713.1:n.*2067A>G |