Linked Data
ClinVar Variation Id:
391864
dbSNP Id:
rs147451395
ExAC:
6:116720772 T / C
gnomAD v2:
6-116720772-T-C
gnomAD v3:
6-116399609-T-C
gnomAD v4:
6-116399609-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116399609T>C , CM000668.2:g.116399609T>C | GRCh38 |
| NC_000006.11:g.116720772T>C , CM000668.1:g.116720772T>C | GRCh37 |
| NC_000006.10:g.116827465T>C | NCBI36 |
| NG_033266.1:g.124490T>C | |
| NG_033266.3:g.150458T>C | |
| NG_033266.4:g.150439T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359564.3:c.359T>C | ENSP00000352567.3:p.Ile120Thr | |
| ENST00000643175.1:c.359T>C | ENSP00000495885.1:p.Ile120Thr | |
| ENST00000644252.3:c.359T>C MANE Select | ENSP00000494147.2:p.Ile120Thr | |
| ENST00000644499.1:c.215T>C | ENSP00000495266.1:p.Ile72Thr | |
| ENST00000645988.1:c.359T>C | ENSP00000494202.1:p.Ile120Thr | |
| ENST00000646710.1:c.359T>C | ENSP00000495970.1:p.Ile120Thr | |
| ENST00000647244.1:c.359T>C | ENSP00000495184.1:p.Ile120Thr | |
| ENST00000331677.7:c.359T>C | ENSP00000332151.2:p.Ile120Thr | |
| ENST00000359564.2:c.359T>C | ENSP00000352567.2:p.Ile120Thr | |
| ENST00000430252.6:c.359T>C | ENSP00000397597.2:p.Ile120Thr | |
| ENST00000452085.7:c.359T>C | ENSP00000404049.2:p.Ile120Thr | |
| ENST00000607094.1:n.1001T>C | ||
| NM_001080976.1:c.359T>C | NP_001074445.1:p.Ile120Thr | |
| NM_013352.2:c.359T>C | NP_037484.1:p.Ile120Thr | |
| XM_011535785.1:c.-229T>C | XP_011534087.1:n.-229T>C | |
| NM_001080976.2:c.359T>C | NP_001074445.1:p.Ile120Thr | |
| NM_001322937.1:c.359T>C | NP_001309866.1:p.Ile120Thr | |
| NM_001322938.1:c.359T>C | NP_001309867.1:p.Ile120Thr | |
| NM_001322939.1:c.416T>C | NP_001309868.1:p.Ile139Thr | |
| NM_001322940.1:c.-199T>C | NP_001309869.1:n.-199T>C | |
| NM_001322941.1:c.-199T>C | NP_001309870.1:n.-199T>C | |
| NM_001322943.1:c.359T>C | NP_001309872.1:p.Ile120Thr | |
| NM_001322944.1:c.359T>C | NP_001309873.1:p.Ile120Thr | |
| NM_013352.3:c.359T>C | NP_037484.1:p.Ile120Thr | |
| NR_136524.1:n.610T>C | ||
| XM_017010795.1:c.416T>C | XP_016866284.1:p.Ile139Thr | |
| XM_017010796.1:c.359T>C | XP_016866285.1:p.Ile120Thr | |
| XM_017010797.1:c.416T>C | XP_016866286.1:p.Ile139Thr | |
| NM_001080976.3:c.359T>C | NP_001074445.1:p.Ile120Thr | |
| NM_001322937.2:c.359T>C | NP_001309866.1:p.Ile120Thr | |
| NM_001322938.2:c.359T>C | NP_001309867.1:p.Ile120Thr | |
| NM_001322939.2:c.416T>C | NP_001309868.1:p.Ile139Thr | |
| NM_001322940.2:c.-199T>C | NP_001309869.1:n.-199T>C | |
| NM_001322941.2:c.-199T>C | NP_001309870.1:n.-199T>C | |
| NM_001322943.2:c.359T>C | NP_001309872.1:p.Ile120Thr | |
| NM_001322944.2:c.359T>C | NP_001309873.1:p.Ile120Thr | |
| NM_001374520.1:c.-542T>C | NP_001361449.1:n.-542T>C | |
| NM_001374521.1:c.-229T>C | NP_001361450.1:n.-229T>C | |
| NM_001374522.1:c.359T>C | NP_001361451.1:p.Ile120Thr | |
| NM_013352.4:c.359T>C MANE Select | NP_037484.1:p.Ile120Thr | |
| NR_136524.2:n.587T>C |