Linked Data
ClinVar Variation Id:
1683628
ClinVar RCV Id:
RCV002244149
dbSNP Id:
rs754771000
ExAC:
16:14041617 A / G
gnomAD v2:
16-14041617-A-G
gnomAD v4:
16-13947760-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947760A>G , CM000678.2:g.13947760A>G | GRCh38 |
| NC_000016.9:g.14041617A>G , CM000678.1:g.14041617A>G | GRCh37 |
| NC_000016.8:g.13949118A>G | NCBI36 |
| NG_011442.1:g.32604A>G , LRG_463:g.32604A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2302A>G | ENSP00000507912.1:p.Met768Val | |
| ENST00000683962.1:c.*1858A>G | ENSP00000506854.1:n.*1858A>G | |
| ENST00000311895.8:c.2164A>G MANE Select | ENSP00000310520.7:p.Met722Val | |
| ENST00000311895.7:c.2164A>G | ENSP00000310520.7:p.Met722Val | |
| ENST00000389138.7:n.1441A>G | ||
| ENST00000462862.1:c.477A>G | ENSP00000461322.1:n.477A>G | |
| NM_005236.2:c.2164A>G , LRG_463t1:c.2164A>G | NP_005227.1:p.Met722Val | |
| XM_011522424.1:c.2302A>G | XP_011520726.1:p.Met768Val | |
| XM_011522425.1:c.1621A>G | XP_011520727.1:p.Met541Val | |
| XM_011522426.1:c.1375A>G | XP_011520728.1:p.Met459Val | |
| XM_011522427.1:c.814A>G | XP_011520729.1:p.Met272Val | |
| XR_932805.1:n.2323A>G | ||
| XM_011522424.3:c.2302A>G | XP_011520726.1:p.Met768Val | |
| XM_017023043.2:c.1375A>G | XP_016878532.1:p.Met459Val | |
| NM_005236.3:c.2164A>G MANE Select | NP_005227.1:p.Met722Val |