Linked Data
ClinVar Variation Id:
739
ClinVar RCV Id:
RCV000000775
dbSNP Id:
rs121918139
ExAC:
6:150710656 T / C
gnomAD v2:
6-150710656-T-C
gnomAD v4:
6-150389520-T-C
PubMed:
PMID:18434651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150389520T>C , CM000668.2:g.150389520T>C | GRCh38 |
| NC_000006.11:g.150710656T>C , CM000668.1:g.150710656T>C | GRCh37 |
| NC_000006.10:g.150752349T>C | NCBI36 |
| NG_016007.1:g.25629T>C | |
| NG_016007.2:g.25629T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344419.8:c.347T>C MANE Select | ENSP00000343763.4:p.Ile116Thr | |
| ENST00000229447.9:c.347T>C | ENSP00000229447.5:p.Ile116Thr | |
| ENST00000344419.7:c.347T>C | ENSP00000343763.3:p.Ile116Thr | |
| ENST00000367335.7:c.347T>C | ENSP00000356304.3:p.Ile116Thr | |
| ENST00000392255.7:c.347T>C | ENSP00000376084.3:p.Ile116Thr | |
| ENST00000392256.6:c.347T>C | ENSP00000376085.2:p.Ile116Thr | |
| ENST00000422583.2:c.179+45T>C | ENSP00000397342.2:n.179+45T>C | |
| ENST00000425615.3:c.182T>C | ENSP00000390081.3:p.Ile61Thr | |
| ENST00000500320.7:c.347T>C | ENSP00000441276.1:p.Ile116Thr | |
| ENST00000546121.1:n.290T>C | ||
| NM_001164694.1:c.347T>C | NP_001158166.1:p.Ile116Thr | |
| NM_001164695.1:c.347T>C | NP_001158167.1:p.Ile116Thr | |
| NM_203395.2:c.347T>C | NP_981932.1:p.Ile116Thr | |
| XM_006715478.2:c.347T>C | XP_006715541.1:p.Ile116Thr | |
| XM_006715479.2:c.182T>C | XP_006715542.1:p.Ile61Thr | |
| XR_245516.3:n.510T>C | ||
| NM_001318495.1:c.124+45T>C | NP_001305424.1:n.124+45T>C | |
| NR_134655.1:n.487T>C | ||
| XM_006715478.3:c.347T>C | XP_006715541.1:p.Ile116Thr | |
| XM_006715479.3:c.182T>C | XP_006715542.1:p.Ile61Thr | |
| NM_001164694.2:c.347T>C | NP_001158166.1:p.Ile116Thr | |
| NM_001164695.2:c.347T>C | NP_001158167.1:p.Ile116Thr | |
| NM_001318495.2:c.124+45T>C | NP_001305424.1:n.124+45T>C | |
| NM_203395.3:c.347T>C MANE Select | NP_981932.1:p.Ile116Thr | |
| NR_134655.2:n.367T>C |