Linked Data
ClinVar Variation Id:
6274
dbSNP Id:
rs121908664
gnomAD v4:
11-68389949-G-A
PubMed:
PMID:11719191
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68389949G>A , CM000673.2:g.68389949G>A | GRCh38 |
| NC_000011.9:g.68157417G>A , CM000673.1:g.68157417G>A | GRCh37 |
| NC_000011.8:g.67913993G>A | NCBI36 |
| NG_015835.1:g.82310G>A | |
| NG_015835.2:g.82310G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000294304.12:c.1481G>A MANE Select | ENSP00000294304.6:p.Arg494Gln | |
| ENST00000294304.11:c.1481G>A | ENSP00000294304.6:p.Arg494Gln | |
| ENST00000529993.5:c.1412+3237G>A | ENSP00000436652.1:n.1412+3237G>A | |
| NM_001291902.1:c.-354+3237G>A | NP_001278831.1:n.-354+3237G>A | |
| NM_002335.3:c.1481G>A | NP_002326.2:p.Arg494Gln | |
| XM_005273994.2:c.1481G>A | XP_005274051.1:p.Arg494Gln | |
| XM_011545029.1:c.1508G>A | XP_011543331.1:p.Arg503Gln | |
| XM_011545030.1:c.1508G>A | XP_011543332.1:p.Arg503Gln | |
| XM_011545031.1:c.1508G>A | XP_011543333.1:p.Arg503Gln | |
| XR_949925.1:n.1523G>A | ||
| XR_949926.1:n.1523G>A | ||
| XR_001747874.1:n.1523G>A | ||
| XR_949925.2:n.1523G>A | ||
| XR_949926.2:n.1523G>A | ||
| NM_002335.4:c.1481G>A MANE Select | NP_002326.2:p.Arg494Gln | |
| NM_001291902.2:c.-354+3237G>A | NP_001278831.1:n.-354+3237G>A |