Linked Data
ClinVar Variation Id:
534543
dbSNP Id:
rs143912353
ExAC:
6:39877617 A / G
gnomAD v2:
6-39877617-A-G
gnomAD v3:
6-39909873-A-G
gnomAD v4:
6-39909873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39909873A>G , CM000668.2:g.39909873A>G | GRCh38 |
| NC_000006.11:g.39877617A>G , CM000668.1:g.39877617A>G | GRCh37 |
| NC_000006.10:g.39985595A>G | NCBI36 |
| NG_009297.1:g.29638T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340692.10:c.1064T>C MANE Select | ENSP00000344794.5:p.Ile355Thr | |
| ENST00000645522.1:n.1202T>C | ||
| ENST00000340692.9:c.1064T>C | ENSP00000344794.5:p.Ile355Thr | |
| ENST00000373181.8:c.803T>C | ENSP00000362277.4:p.Ile268Thr | |
| ENST00000373186.8:c.1064T>C | ENSP00000362282.4:p.Ile355Thr | |
| ENST00000373188.6:c.1064T>C | ENSP00000362284.2:p.Ile355Thr | |
| ENST00000373195.7:c.803T>C | ENSP00000362291.3:p.Ile268Thr | |
| ENST00000425303.6:c.1064T>C | ENSP00000416478.2:p.Ile355Thr | |
| ENST00000432280.2:c.977T>C | ENSP00000410809.2:p.Ile326Thr | |
| NM_001075098.3:c.1064T>C | NP_001068566.1:p.Ile355Thr | |
| NM_005943.5:c.1064T>C | NP_005934.2:p.Ile355Thr | |
| NR_033233.1:n.1071T>C | ||
| XM_011514632.1:c.1064T>C | XP_011512934.1:p.Ile355Thr | |
| XM_011514633.1:c.1064T>C | XP_011512935.1:p.Ile355Thr | |
| XM_011514634.1:c.803T>C | XP_011512936.1:p.Ile268Thr | |
| XM_011514635.1:c.1064T>C | XP_011512937.1:p.Ile355Thr | |
| XR_926225.1:n.1109T>C | ||
| NM_001358529.1:c.1064T>C | NP_001345458.1:p.Ile355Thr | |
| NM_001358530.1:c.1064T>C | NP_001345459.1:p.Ile355Thr | |
| NM_001358531.1:c.803T>C | NP_001345460.1:p.Ile268Thr | |
| NM_001358533.1:c.803T>C | NP_001345462.1:p.Ile268Thr | |
| NM_001358534.1:c.803T>C | NP_001345463.1:p.Ile268Thr | |
| NM_001358530.2:c.1064T>C MANE Select | NP_001345459.1:p.Ile355Thr | |
| NM_001075098.4:c.1064T>C | NP_001068566.1:p.Ile355Thr | |
| NM_001358529.2:c.1064T>C | NP_001345458.1:p.Ile355Thr | |
| NM_001358531.2:c.803T>C | NP_001345460.1:p.Ile268Thr | |
| NM_001358533.2:c.803T>C | NP_001345462.1:p.Ile268Thr | |
| NR_033233.2:n.982T>C | ||
| NM_001358534.2:c.803T>C | NP_001345463.1:p.Ile268Thr | |
| NM_005943.6:c.1064T>C | NP_005934.2:p.Ile355Thr |