Linked Data
dbSNP Id:
rs267733
ExAC:
1:150958836 A / G
gnomAD v2:
1-150958836-A-G
gnomAD v3:
1-150986360-A-G
gnomAD v4:
1-150986360-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150986360A>G , CM000663.2:g.150986360A>G | GRCh38 |
| NC_000001.10:g.150958836A>G , CM000663.1:g.150958836A>G | GRCh37 |
| NC_000001.9:g.149225460A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368947.9:c.497A>G MANE Select | ENSP00000357943.4:p.Asp166Gly | |
| ENST00000368947.8:c.497A>G | ENSP00000357943.4:p.Asp166Gly | |
| NM_003568.2:c.497A>G | NP_003559.2:p.Asp166Gly | |
| XM_005245539.3:c.497A>G | XP_005245596.1:p.Asp166Gly | |
| XM_011510058.1:c.497A>G | XP_011508360.1:p.Asp166Gly | |
| XM_011510058.3:c.497A>G | XP_011508360.1:p.Asp166Gly | |
| NM_003568.3:c.497A>G MANE Select | NP_003559.2:p.Asp166Gly |