Linked Data
ClinVar Variation Id:
95948
dbSNP Id:
rs181758389
ExAC:
14:21794177 G / A
gnomAD v2:
14-21794177-G-A
gnomAD v3:
14-21326018-G-A
gnomAD v4:
14-21326018-G-A
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21326018G>A , CM000676.2:g.21326018G>A | GRCh38 |
| NC_000014.8:g.21794177G>A , CM000676.1:g.21794177G>A | GRCh37 |
| NC_000014.7:g.20864017G>A | NCBI36 |
| NG_008933.1:g.43042G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2555G>A MANE Select | ENSP00000382895.2:p.Arg852Gln | |
| ENST00000382933.8:c.689-1605G>A | ENSP00000372391.4:n.689-1605G>A | |
| ENST00000400017.6:c.2555G>A | ENSP00000382895.2:p.Arg852Gln | |
| ENST00000553927.1:n.1487G>A | ||
| ENST00000555322.5:c.982G>A | ||
| ENST00000555489.5:c.748G>A | ENSP00000451044.1:n.748G>A | |
| ENST00000555587.5:c.980G>A | ENSP00000451262.1:p.Arg327Gln | |
| ENST00000556336.5:c.1682-1605G>A | ENSP00000450445.1:n.1682-1605G>A | |
| ENST00000557771.5:c.2441G>A | ENSP00000451219.1:p.Arg814Gln | |
| NM_020366.3:c.2555G>A | NP_065099.3:p.Arg852Gln | |
| XM_005267879.2:c.1481G>A | XP_005267936.1:p.Arg494Gln | |
| XM_005267880.2:c.1448G>A | XP_005267937.1:p.Arg483Gln | |
| XM_005267881.2:c.929G>A | XP_005267938.1:p.Arg310Gln | |
| XM_011536978.1:c.1481G>A | XP_011535280.1:p.Arg494Gln | |
| XM_011536979.1:c.1265G>A | XP_011535281.1:p.Arg422Gln | |
| XM_011536980.1:c.1136G>A | XP_011535282.1:p.Arg379Gln | |
| XM_011536981.1:c.1141+948G>A | XP_011535283.1:n.1141+948G>A | |
| XM_011536982.1:c.796+1293G>A | XP_011535284.1:n.796+1293G>A | |
| XM_011536983.1:c.2522G>A | XP_011535285.1:p.Arg841Gln | |
| XM_005267881.3:c.929G>A | XP_005267938.1:p.Arg310Gln | |
| XM_017021473.1:c.1141+948G>A | XP_016876962.1:n.1141+948G>A | |
| XM_024449663.1:c.1481G>A | XP_024305431.1:p.Arg494Gln | |
| XM_024449664.1:c.1141+948G>A | XP_024305432.1:n.1141+948G>A | |
| XM_024449665.1:c.796+1293G>A | XP_024305433.1:n.796+1293G>A | |
| XM_024449666.1:c.796+1293G>A | XP_024305434.1:n.796+1293G>A | |
| NM_001377523.1:c.689-1605G>A | NP_001364452.1:n.689-1605G>A | |
| NM_001377948.1:c.1481G>A | NP_001364877.1:p.Arg494Gln | |
| NM_001377949.1:c.796+1293G>A | NP_001364878.1:n.796+1293G>A | |
| NM_001377950.1:c.689-1605G>A | NP_001364879.1:n.689-1605G>A | |
| NM_001377951.1:c.191-1605G>A | NP_001364880.1:n.191-1605G>A | |
| NM_020366.4:c.2555G>A MANE Select | NP_065099.3:p.Arg852Gln |