Linked Data
gnomAD v3:
3-69964981-T-C
gnomAD v4:
3-69964981-T-C
MyVariant Identifiers:
chr3:g.70014132T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69964981T>C , CM000665.2:g.69964981T>C | GRCh38 |
| NC_000003.11:g.70014132T>C , CM000665.1:g.70014132T>C | GRCh37 |
| NC_000003.10:g.70096822T>C | NCBI36 |
| NG_011631.1:g.230500T>C , LRG_776:g.230500T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1248T>C | ENSP00000324443.5:p.His416= | |
| ENST00000687384.1:c.1245T>C | ENSP00000510225.1:p.His415= | |
| ENST00000689390.1:n.1470T>C | ||
| ENST00000693031.1:c.1221T>C | ENSP00000509845.1:p.His407= | |
| ENST00000693549.1:c.*59T>C | ENSP00000509358.1:n.*59T>C | |
| ENST00000314589.10:c.1248T>C | ENSP00000324443.5:p.His416= | |
| ENST00000352241.9:c.1314T>C MANE Select | ENSP00000295600.8:p.His438= | |
| ENST00000394351.9:c.993T>C MANE Plus Clinical | ENSP00000377880.3:p.His331= | |
| ENST00000448226.9:c.1293T>C | ENSP00000391803.3:p.His431= | |
| ENST00000642352.1:c.1296T>C | ENSP00000494105.1:p.His432= | |
| ENST00000314557.10:c.975T>C | ENSP00000324246.6:p.His325= | |
| ENST00000314589.9:c.1248T>C | ENSP00000324443.5:p.His416= | |
| ENST00000328528.10:c.1293T>C | ENSP00000327867.6:p.His431= | |
| ENST00000352241.8:c.1296T>C | ENSP00000295600.7:p.His432= | |
| ENST00000394351.7:c.993T>C | ENSP00000377880.3:p.His331= | |
| ENST00000448226.6:c.1314T>C | ENSP00000391803.2:p.His438= | |
| ENST00000472437.5:c.1140T>C | ENSP00000418845.1:p.His380= | |
| ENST00000478490.5:c.*640T>C | ENSP00000433487.1:n.*640T>C | |
| ENST00000531774.1:c.807T>C | ENSP00000435909.1:p.His269= | |
| NM_000248.3:c.993T>C , LRG_776t1:c.993T>C | NP_000239.1:p.His331= | |
| NM_001184967.1:c.1140T>C | NP_001171896.1:p.His380= | |
| NM_006722.2:c.1293T>C | NP_006713.1:p.His431= | |
| NM_198158.2:c.975T>C | NP_937801.1:p.His325= | |
| NM_198159.2:c.1296T>C | NP_937802.1:p.His432= | |
| NM_198177.2:c.1248T>C | NP_937820.1:p.His416= | |
| NM_198178.2:c.807T>C | NP_937821.2:p.His269= | |
| XM_005264754.1:c.1314T>C | XP_005264811.1:p.His438= | |
| XM_005264755.2:c.1266T>C | XP_005264812.1:p.His422= | |
| XM_006713164.2:c.1158T>C | XP_006713227.1:p.His386= | |
| XM_011533722.1:c.1311T>C | XP_011532024.1:p.His437= | |
| XM_011533723.1:c.1263T>C | XP_011532025.1:p.His421= | |
| XM_011533724.1:c.1158T>C | XP_011532026.1:p.His386= | |
| XM_011533725.1:c.1146T>C | XP_011532027.1:p.His382= | |
| XM_011533726.1:c.1128T>C | XP_011532028.1:p.His376= | |
| NM_001354604.1:c.1314T>C | NP_001341533.1:p.His438= | |
| NM_001354605.1:c.1311T>C | NP_001341534.1:p.His437= | |
| NM_001354606.1:c.1293T>C | NP_001341535.1:p.His431= | |
| NM_001354607.1:c.1245T>C | NP_001341536.1:p.His415= | |
| NM_001354608.1:c.1140T>C | NP_001341537.1:p.His380= | |
| NM_001184967.2:c.1140T>C | NP_001171896.1:p.His380= | |
| NM_001354604.2:c.1314T>C MANE Select | NP_001341533.1:p.His438= | |
| NM_001354605.2:c.1311T>C | NP_001341534.1:p.His437= | |
| NM_001354606.2:c.1293T>C | NP_001341535.1:p.His431= | |
| NM_001354607.2:c.1245T>C | NP_001341536.1:p.His415= | |
| NM_001354608.2:c.1140T>C | NP_001341537.1:p.His380= | |
| NM_198158.3:c.975T>C | NP_937801.1:p.His325= | |
| NM_198159.3:c.1296T>C | NP_937802.1:p.His432= | |
| NM_198177.3:c.1248T>C | NP_937820.1:p.His416= | |
| NM_198178.3:c.807T>C | NP_937821.2:p.His269= | |
| NM_000248.4:c.993T>C MANE Plus Clinical | NP_000239.1:p.His331= | |
| NM_006722.3:c.1293T>C | NP_006713.1:p.His431= |