Linked Data
ClinVar Variation Id:
217612
dbSNP Id:
rs763486732
ExAC:
4:15587793 G / A
gnomAD v2:
4-15587793-G-A
gnomAD v3:
4-15586170-G-A
gnomAD v4:
4-15586170-G-A
PubMed:
PMID:26092869
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15586170G>A , CM000666.2:g.15586170G>A | GRCh38 |
| NC_000004.11:g.15587793G>A , CM000666.1:g.15587793G>A | GRCh37 |
| NC_000004.10:g.15196891G>A | NCBI36 |
| NG_013035.1:g.121305G>A , LRG_697:g.121305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.4025G>A | ENSP00000374303.8:p.Arg1342Gln | |
| ENST00000424120.6:c.3989G>A MANE Select | ENSP00000403465.1:p.Arg1330Gln | |
| ENST00000503292.6:c.3989G>A | ENSP00000421809.1:p.Arg1330Gln | |
| ENST00000506643.5:c.3842G>A | ENSP00000422931.2:p.Arg1281Gln | |
| ENST00000514039.6:c.218G>A | ENSP00000488534.2:p.Arg73Gln | |
| ENST00000634028.2:c.3842G>A | ENSP00000488669.2:p.Arg1281Gln | |
| ENST00000650860.2:c.*1486G>A | ENSP00000498775.1:n.*1486G>A | |
| ENST00000674945.1:c.3665G>A | ENSP00000502333.1:p.Arg1222Gln | |
| ENST00000675768.1:n.1209G>A | ||
| ENST00000680586.1:n.4648G>A | ||
| ENST00000389652.9:c.3487G>A | ||
| ENST00000424120.5:c.3989G>A | ENSP00000403465.1:p.Arg1330Gln | |
| ENST00000503292.5:c.3989G>A | ENSP00000421809.1:p.Arg1330Gln | |
| ENST00000506643.4:c.2317G>A | ||
| ENST00000634028.1:c.3795G>A | ENSP00000488669.1:n.3795G>A | |
| NM_001080522.2:c.3989G>A , LRG_697t1:c.3989G>A | NP_001073991.2:p.Arg1330Gln | |
| XM_005248177.1:c.3989G>A | XP_005248234.1:p.Arg1330Gln | |
| XM_011513869.1:c.4007G>A | XP_011512171.1:p.Arg1336Gln | |
| XM_011513870.1:c.4007G>A | XP_011512172.1:p.Arg1336Gln | |
| XM_011513871.1:c.3860G>A | XP_011512173.1:p.Arg1287Gln | |
| XM_017008482.1:c.3842G>A | XP_016863971.1:p.Arg1281Gln | |
| NM_001378615.1:c.3989G>A MANE Select | NP_001365544.1:p.Arg1330Gln | |
| NM_001378617.1:c.3842G>A | NP_001365546.1:p.Arg1281Gln |