Linked Data
ClinVar Variation Id:
1087407
ClinVar RCV Id:
RCV001405491
dbSNP Id:
rs373510515
ExAC:
16:14041889 G / A
gnomAD v2:
16-14041889-G-A
gnomAD v3:
16-13948032-G-A
gnomAD v4:
16-13948032-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13948032G>A , CM000678.2:g.13948032G>A | GRCh38 |
| NC_000016.9:g.14041889G>A , CM000678.1:g.14041889G>A | GRCh37 |
| NC_000016.8:g.13949390G>A | NCBI36 |
| NG_011442.1:g.32876G>A , LRG_463:g.32876G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682617.1:c.2574G>A | ENSP00000507912.1:p.Leu858= | |
| ENST00000683962.1:c.*2130G>A | ENSP00000506854.1:n.*2130G>A | |
| ENST00000311895.8:c.2436G>A MANE Select | ENSP00000310520.7:p.Leu812= | |
| ENST00000311895.7:c.2436G>A | ENSP00000310520.7:p.Leu812= | |
| ENST00000389138.7:n.1713G>A | ||
| NM_005236.2:c.2436G>A , LRG_463t1:c.2436G>A | NP_005227.1:p.Leu812= | |
| XM_011522424.1:c.2574G>A | XP_011520726.1:p.Leu858= | |
| XM_011522425.1:c.1893G>A | XP_011520727.1:p.Leu631= | |
| XM_011522426.1:c.1647G>A | XP_011520728.1:p.Leu549= | |
| XM_011522427.1:c.1086G>A | XP_011520729.1:p.Leu362= | |
| XR_932805.1:n.2595G>A | ||
| XM_011522424.3:c.2574G>A | XP_011520726.1:p.Leu858= | |
| XM_017023043.2:c.1647G>A | XP_016878532.1:p.Leu549= | |
| NM_005236.3:c.2436G>A MANE Select | NP_005227.1:p.Leu812= |