Linked Data
ClinVar Variation Id:
142437
dbSNP Id:
rs587782466
ExAC:
16:68863641 G / A
gnomAD v2:
16-68863641-G-A
gnomAD v3:
16-68829738-G-A
gnomAD v4:
16-68829738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68829738G>A , CM000678.2:g.68829738G>A | GRCh38 |
| NC_000016.9:g.68863641G>A , CM000678.1:g.68863641G>A | GRCh37 |
| NC_000016.8:g.67421142G>A | NCBI36 |
| NG_008021.1:g.97447G>A , LRG_301:g.97447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.2380G>A MANE Select | ENSP00000261769.4:p.Val794Ile | |
| ENST00000261769.9:c.2380G>A | ENSP00000261769.4:p.Val794Ile | |
| ENST00000422392.6:c.2197G>A | ENSP00000414946.2:p.Val733Ile | |
| ENST00000562118.1:n.598G>A | ||
| ENST00000562836.5:n.2451G>A | ||
| ENST00000566510.5:c.*1046G>A | ENSP00000458139.1:n.*1046G>A | |
| ENST00000566612.5:c.*620G>A | ENSP00000454782.1:n.*620G>A | |
| ENST00000611625.4:c.2443G>A | ENSP00000481063.1:p.Val815Ile | |
| ENST00000612417.4:c.1853+3184G>A | ENSP00000478360.1:n.1853+3184G>A | |
| ENST00000621016.4:c.1866-4465G>A | ENSP00000480664.1:n.1866-4465G>A | |
| NM_004360.3:c.2380G>A , LRG_301t1:c.2380G>A | NP_004351.1:p.Val794Ile | |
| XM_011523488.1:c.1645G>A | XP_011521790.1:p.Val549Ile | |
| XM_011523489.1:c.1645G>A | XP_011521791.1:p.Val549Ile | |
| NM_001317184.1:c.2197G>A | NP_001304113.1:p.Val733Ile | |
| NM_001317185.1:c.832G>A | NP_001304114.1:p.Val278Ile | |
| NM_001317186.1:c.415G>A | NP_001304115.1:p.Val139Ile | |
| NM_004360.4:c.2380G>A | NP_004351.1:p.Val794Ile | |
| NM_004360.5:c.2380G>A MANE Select | NP_004351.1:p.Val794Ile | |
| NM_001317184.2:c.2197G>A | NP_001304113.1:p.Val733Ile | |
| NM_001317185.2:c.832G>A | NP_001304114.1:p.Val278Ile | |
| NM_001317186.2:c.415G>A | NP_001304115.1:p.Val139Ile |