Linked Data
ClinVar Variation Id:
1441047
ClinVar RCV Id:
RCV001979009
dbSNP Id:
rs75932628
ExAC:
6:41129252 C / A
gnomAD v2:
6-41129252-C-A
gnomAD v3:
6-41161514-C-A
gnomAD v4:
6-41161514-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41161514C>A , CM000668.2:g.41161514C>A | GRCh38 |
| NC_000006.11:g.41129252C>A , CM000668.1:g.41129252C>A | GRCh37 |
| NC_000006.10:g.41237230C>A | NCBI36 |
| NG_011561.1:g.6671G>T , LRG_631:g.6671G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373113.8:c.140G>T MANE Select | ENSP00000362205.3:p.Arg47Leu | |
| ENST00000338469.3:c.140G>T | ENSP00000342651.4:p.Arg47Leu | |
| ENST00000373113.7:c.140G>T | ENSP00000362205.3:p.Arg47Leu | |
| ENST00000373122.8:c.140G>T | ENSP00000362214.4:p.Arg47Leu | |
| NM_001271821.1:c.140G>T | NP_001258750.1:p.Arg47Leu | |
| NM_018965.3:c.140G>T , LRG_631t1:c.140G>T | NP_061838.1:p.Arg47Leu | |
| XM_006715116.2:c.130+1529G>T | XP_006715179.1:n.130+1529G>T | |
| XR_926795.1:n.222+5951C>A | ||
| XR_926796.1:n.214+5951C>A | ||
| XR_926797.1:n.188+5951C>A | ||
| XR_926795.2:n.517+5951C>A | ||
| XR_926797.2:n.232+5951C>A | ||
| NM_001271821.2:c.140G>T | NP_001258750.1:p.Arg47Leu | |
| NM_018965.4:c.140G>T MANE Select | NP_061838.1:p.Arg47Leu |