Linked Data
ClinVar Variation Id:
444891
dbSNP Id:
rs1443735811
gnomAD v2:
14-20920212-A-G
gnomAD v4:
14-20452053-A-G
PubMed:
PMID:28805828
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20452053A>G , CM000676.2:g.20452053A>G | GRCh38 |
| NC_000014.8:g.20920212A>G , CM000676.1:g.20920212A>G | GRCh37 |
| NC_000014.7:g.19990052A>G | NCBI36 |
| NG_008718.1:g.1923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.332T>C MANE Select | ENSP00000206542.4:p.Ile111Thr | |
| ENST00000206542.8:c.332T>C | ENSP00000206542.4:p.Ile111Thr | |
| ENST00000553640.3:c.332T>C | ENSP00000451580.1:p.Ile111Thr | |
| ENST00000554699.1:n.442T>C | ||
| ENST00000555223.5:c.217T>C | ||
| ENST00000556252.1:n.755T>C | ||
| ENST00000556439.1:n.917T>C | ||
| NM_017807.3:c.332T>C | NP_060277.1:p.Ile111Thr | |
| XM_011536930.1:c.275T>C | XP_011535232.1:p.Ile92Thr | |
| XM_011536931.1:c.89T>C | XP_011535233.1:p.Ile30Thr | |
| XM_011536932.1:c.89T>C | XP_011535234.1:p.Ile30Thr | |
| NM_017807.4:c.332T>C MANE Select | NP_060277.1:p.Ile111Thr |