Linked Data
ClinVar Variation Id:
4970
dbSNP Id:
rs137852990
ExAC:
2:44079831 G / A
gnomAD v2:
2-44079831-G-A
gnomAD v3:
2-43852692-G-A
gnomAD v4:
2-43852692-G-A
PubMed:
PMID:11099417
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43852692G>A , CM000664.2:g.43852692G>A | GRCh38 |
| NC_000002.11:g.44079831G>A , CM000664.1:g.44079831G>A | GRCh37 |
| NC_000002.10:g.43933335G>A | NCBI36 |
| NG_008884.1:g.18729G>A | |
| NG_008884.2:g.25751G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000272286.4:c.788G>A MANE Select | ENSP00000272286.2:p.Arg263Gln | |
| ENST00000644611.1:c.800G>A | ENSP00000495423.1:p.Arg267Gln | |
| ENST00000272286.2:c.788G>A | ENSP00000272286.2:p.Arg263Gln | |
| NM_022437.2:c.788G>A | NP_071882.1:p.Arg263Gln | |
| XM_005264483.2:c.788G>A | XP_005264540.1:p.Arg263Gln | |
| XM_011533029.1:c.800G>A | XP_011531331.1:p.Arg267Gln | |
| XM_011533030.1:c.800G>A | XP_011531332.1:p.Arg267Gln | |
| XM_011533031.1:c.572G>A | XP_011531333.1:p.Arg191Gln | |
| XR_939707.1:n.1290G>A | ||
| NM_001357321.1:c.788G>A | NP_001344250.1:p.Arg263Gln | |
| XM_011533029.2:c.800G>A | XP_011531331.1:p.Arg267Gln | |
| XM_011533030.2:c.800G>A | XP_011531332.1:p.Arg267Gln | |
| XR_001738891.1:n.1304G>A | ||
| XR_939707.2:n.1304G>A | ||
| NM_022437.3:c.788G>A MANE Select | NP_071882.1:p.Arg263Gln | |
| NM_001357321.2:c.788G>A | NP_001344250.1:p.Arg263Gln |