Linked Data
ClinVar Variation Id:
317820
dbSNP Id:
rs201501958
ExAC:
16:14041719 G / A
gnomAD v2:
16-14041719-G-A
gnomAD v3:
16-13947862-G-A
gnomAD v4:
16-13947862-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947862G>A , CM000678.2:g.13947862G>A | GRCh38 |
| NC_000016.9:g.14041719G>A , CM000678.1:g.14041719G>A | GRCh37 |
| NC_000016.8:g.13949220G>A | NCBI36 |
| NG_011442.1:g.32706G>A , LRG_463:g.32706G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2404G>A | ENSP00000507912.1:p.Val802Met | |
| ENST00000683962.1:c.*1960G>A | ENSP00000506854.1:n.*1960G>A | |
| ENST00000311895.8:c.2266G>A MANE Select | ENSP00000310520.7:p.Val756Met | |
| ENST00000311895.7:c.2266G>A | ENSP00000310520.7:p.Val756Met | |
| ENST00000389138.7:n.1543G>A | ||
| ENST00000462862.1:c.579G>A | ENSP00000461322.1:n.579G>A | |
| NM_005236.2:c.2266G>A , LRG_463t1:c.2266G>A | NP_005227.1:p.Val756Met | |
| XM_011522424.1:c.2404G>A | XP_011520726.1:p.Val802Met | |
| XM_011522425.1:c.1723G>A | XP_011520727.1:p.Val575Met | |
| XM_011522426.1:c.1477G>A | XP_011520728.1:p.Val493Met | |
| XM_011522427.1:c.916G>A | XP_011520729.1:p.Val306Met | |
| XR_932805.1:n.2425G>A | ||
| XM_011522424.3:c.2404G>A | XP_011520726.1:p.Val802Met | |
| XM_017023043.2:c.1477G>A | XP_016878532.1:p.Val493Met | |
| NM_005236.3:c.2266G>A MANE Select | NP_005227.1:p.Val756Met |