Linked Data
ClinVar Variation Id:
433345
dbSNP Id:
rs63750608
gnomAD v2:
16-16248746-A-G
gnomAD v3:
16-16154889-A-G
gnomAD v4:
16-16154889-A-G
PubMed:
PMID:17617515
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154889A>G , CM000678.2:g.16154889A>G | GRCh38 |
| NC_000016.9:g.16248746A>G , CM000678.1:g.16248746A>G | GRCh37 |
| NC_000016.8:g.16156247A>G | NCBI36 |
| NG_007558.2:g.73583T>C | |
| NG_007558.3:g.73729T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576204.6:n.888T>C | ||
| ENST00000622290.5:c.*197T>C | ENSP00000483331.2:n.*197T>C | |
| ENST00000205557.12:c.4025T>C MANE Select | ENSP00000205557.7:p.Ile1342Thr | |
| ENST00000640696.1:c.839T>C | ENSP00000492197.1:p.Ile280Thr | |
| ENST00000205557.11:c.4025T>C | ENSP00000205557.7:p.Ile1342Thr | |
| ENST00000456970.6:c.3650T>C | ENSP00000405002.2:n.3650T>C | |
| ENST00000576204.5:n.888T>C | ||
| ENST00000622290.4:c.*1234T>C | ENSP00000483331.1:n.*1234T>C | |
| NM_001171.5:c.4025T>C | NP_001162.4:p.Ile1342Thr | |
| XM_011522479.1:c.3992T>C | XP_011520781.1:p.Ile1331Thr | |
| XM_011522480.1:c.3683T>C | XP_011520782.1:p.Ile1228Thr | |
| XM_011522481.1:c.3683T>C | XP_011520783.1:p.Ile1228Thr | |
| XR_933134.1:n.539-4892A>G | ||
| NM_001351800.1:c.3683T>C | NP_001338729.1:p.Ile1228Thr | |
| NR_147784.1:n.3687T>C | ||
| XM_011522479.2:c.3992T>C | XP_011520781.1:p.Ile1331Thr | |
| XM_011522481.3:c.3683T>C | XP_011520783.1:p.Ile1228Thr | |
| XM_017023212.1:c.3857T>C | XP_016878701.1:p.Ile1286Thr | |
| XM_024450261.1:c.4061T>C | XP_024306029.1:p.Ile1354Thr | |
| NM_001171.6:c.4025T>C MANE Select | NP_001162.5:p.Ile1342Thr |