Linked Data
ClinVar Variation Id:
192242
dbSNP Id:
rs201258663
ExAC:
6:41129195 G / A
gnomAD v2:
6-41129195-G-A
gnomAD v3:
6-41161457-G-A
gnomAD v4:
6-41161457-G-A
PubMed:
PMID:20301376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161457G>A , CM000668.2:g.41161457G>A | GRCh38 |
| NC_000006.11:g.41129195G>A , CM000668.1:g.41129195G>A | GRCh37 |
| NC_000006.10:g.41237173G>A | NCBI36 |
| NG_011561.1:g.6728C>T , LRG_631:g.6728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.197C>T MANE Select | ENSP00000362205.3:p.Thr66Met | |
| ENST00000338469.3:c.197C>T | ENSP00000342651.4:p.Thr66Met | |
| ENST00000373113.7:c.197C>T | ENSP00000362205.3:p.Thr66Met | |
| ENST00000373122.8:c.197C>T | ENSP00000362214.4:p.Thr66Met | |
| NM_001271821.1:c.197C>T | NP_001258750.1:p.Thr66Met | |
| NM_018965.3:c.197C>T , LRG_631t1:c.197C>T | NP_061838.1:p.Thr66Met | |
| XM_006715116.2:c.131-1575C>T | XP_006715179.1:n.131-1575C>T | |
| XR_926795.1:n.222+5894G>A | ||
| XR_926796.1:n.214+5894G>A | ||
| XR_926797.1:n.188+5894G>A | ||
| XR_926795.2:n.517+5894G>A | ||
| XR_926797.2:n.232+5894G>A | ||
| NM_001271821.2:c.197C>T | NP_001258750.1:p.Thr66Met | |
| NM_018965.4:c.197C>T MANE Select | NP_061838.1:p.Thr66Met |