Linked Data
ClinVar Variation Id:
2947768
ClinVar RCV Id:
RCV003804398
dbSNP Id:
rs2066655633
gnomAD v3:
3-69965118-T-C
gnomAD v4:
3-69965118-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69965118T>C , CM000665.2:g.69965118T>C | GRCh38 |
| NC_000003.11:g.70014269T>C , CM000665.1:g.70014269T>C | GRCh37 |
| NC_000003.10:g.70096959T>C | NCBI36 |
| NG_011631.1:g.230637T>C , LRG_776:g.230637T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314589.11:c.1385T>C | ENSP00000324443.5:p.Ile462Thr | |
| ENST00000687384.1:c.1382T>C | ENSP00000510225.1:p.Ile461Thr | |
| ENST00000689390.1:n.1607T>C | ||
| ENST00000693031.1:c.1358T>C | ENSP00000509845.1:p.Ile453Thr | |
| ENST00000693549.1:c.*196T>C | ENSP00000509358.1:n.*196T>C | |
| ENST00000314589.10:c.1385T>C | ENSP00000324443.5:p.Ile462Thr | |
| ENST00000352241.9:c.1451T>C MANE Select | ENSP00000295600.8:p.Ile484Thr | |
| ENST00000394351.9:c.1130T>C MANE Plus Clinical | ENSP00000377880.3:p.Ile377Thr | |
| ENST00000448226.9:c.1430T>C | ENSP00000391803.3:p.Ile477Thr | |
| ENST00000642352.1:c.1433T>C | ENSP00000494105.1:p.Ile478Thr | |
| ENST00000314557.10:c.1112T>C | ENSP00000324246.6:p.Ile371Thr | |
| ENST00000314589.9:c.1385T>C | ENSP00000324443.5:p.Ile462Thr | |
| ENST00000328528.10:c.1430T>C | ENSP00000327867.6:p.Ile477Thr | |
| ENST00000352241.8:c.1433T>C | ENSP00000295600.7:p.Ile478Thr | |
| ENST00000394351.7:c.1130T>C | ENSP00000377880.3:p.Ile377Thr | |
| ENST00000448226.6:c.1451T>C | ENSP00000391803.2:p.Ile484Thr | |
| ENST00000472437.5:c.1277T>C | ENSP00000418845.1:p.Ile426Thr | |
| ENST00000478490.5:c.*777T>C | ENSP00000433487.1:n.*777T>C | |
| ENST00000531774.1:c.944T>C | ENSP00000435909.1:p.Ile315Thr | |
| NM_000248.3:c.1130T>C , LRG_776t1:c.1130T>C | NP_000239.1:p.Ile377Thr | |
| NM_001184967.1:c.1277T>C | NP_001171896.1:p.Ile426Thr | |
| NM_006722.2:c.1430T>C | NP_006713.1:p.Ile477Thr | |
| NM_198158.2:c.1112T>C | NP_937801.1:p.Ile371Thr | |
| NM_198159.2:c.1433T>C | NP_937802.1:p.Ile478Thr | |
| NM_198177.2:c.1385T>C | NP_937820.1:p.Ile462Thr | |
| NM_198178.2:c.944T>C | NP_937821.2:p.Ile315Thr | |
| XM_005264754.1:c.1451T>C | XP_005264811.1:p.Ile484Thr | |
| XM_005264755.2:c.1403T>C | XP_005264812.1:p.Ile468Thr | |
| XM_006713164.2:c.1295T>C | XP_006713227.1:p.Ile432Thr | |
| XM_011533722.1:c.1448T>C | XP_011532024.1:p.Ile483Thr | |
| XM_011533723.1:c.1400T>C | XP_011532025.1:p.Ile467Thr | |
| XM_011533724.1:c.1295T>C | XP_011532026.1:p.Ile432Thr | |
| XM_011533725.1:c.1283T>C | XP_011532027.1:p.Ile428Thr | |
| XM_011533726.1:c.1265T>C | XP_011532028.1:p.Ile422Thr | |
| NM_001354604.1:c.1451T>C | NP_001341533.1:p.Ile484Thr | |
| NM_001354605.1:c.1448T>C | NP_001341534.1:p.Ile483Thr | |
| NM_001354606.1:c.1430T>C | NP_001341535.1:p.Ile477Thr | |
| NM_001354607.1:c.1382T>C | NP_001341536.1:p.Ile461Thr | |
| NM_001354608.1:c.1277T>C | NP_001341537.1:p.Ile426Thr | |
| NM_001184967.2:c.1277T>C | NP_001171896.1:p.Ile426Thr | |
| NM_001354604.2:c.1451T>C MANE Select | NP_001341533.1:p.Ile484Thr | |
| NM_001354605.2:c.1448T>C | NP_001341534.1:p.Ile483Thr | |
| NM_001354606.2:c.1430T>C | NP_001341535.1:p.Ile477Thr | |
| NM_001354607.2:c.1382T>C | NP_001341536.1:p.Ile461Thr | |
| NM_001354608.2:c.1277T>C | NP_001341537.1:p.Ile426Thr | |
| NM_198158.3:c.1112T>C | NP_937801.1:p.Ile371Thr | |
| NM_198159.3:c.1433T>C | NP_937802.1:p.Ile478Thr | |
| NM_198177.3:c.1385T>C | NP_937820.1:p.Ile462Thr | |
| NM_198178.3:c.944T>C | NP_937821.2:p.Ile315Thr | |
| NM_000248.4:c.1130T>C MANE Plus Clinical | NP_000239.1:p.Ile377Thr | |
| NM_006722.3:c.1430T>C | NP_006713.1:p.Ile477Thr |