Linked Data
dbSNP Id:
rs767295807
ExAC:
22:37581387 T / G
gnomAD v2:
22-37581387-T-G
gnomAD v3:
22-37185347-T-G
gnomAD v4:
22-37185347-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37185347T>G , CM000684.2:g.37185347T>G | GRCh38 |
| NC_000022.10:g.37581387T>G , CM000684.1:g.37581387T>G | GRCh37 |
| NC_000022.9:g.35911333T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337843.7:c.160A>C MANE Select | ENSP00000338812.2:p.Ser54Arg | |
| ENST00000337843.6:c.160A>C | ENSP00000338812.2:p.Ser54Arg | |
| ENST00000397110.6:c.160A>C | ENSP00000380299.2:p.Ser54Arg | |
| ENST00000434784.1:c.160A>C | ENSP00000399243.1:p.Ser54Arg | |
| ENST00000470655.5:n.3650A>C | ||
| ENST00000493023.1:n.602A>C | ||
| NM_031910.3:c.160A>C | NP_114116.3:p.Ser54Arg | |
| NM_182486.1:c.160A>C | NP_872292.1:p.Ser54Arg | |
| XM_006724125.2:c.103A>C | XP_006724188.1:p.Ser35Arg | |
| XM_011529857.1:c.103A>C | XP_011528159.1:p.Ser35Arg | |
| NM_001365878.1:c.103A>C | NP_001352807.1:p.Ser35Arg | |
| XM_011529857.2:c.103A>C | XP_011528159.1:p.Ser35Arg | |
| XM_017028569.1:c.160A>C | XP_016884058.1:p.Ser54Arg | |
| XM_024452150.1:c.160A>C | XP_024307918.1:p.Ser54Arg | |
| XM_024452151.1:c.160A>C | XP_024307919.1:p.Ser54Arg | |
| XM_024452152.1:c.160A>C | XP_024307920.1:p.Ser54Arg | |
| XM_024452153.1:c.160A>C | XP_024307921.1:p.Ser54Arg | |
| XM_024452154.1:c.160A>C | XP_024307922.1:p.Ser54Arg | |
| XM_024452155.1:c.103A>C | XP_024307923.1:p.Ser35Arg | |
| NM_031910.4:c.160A>C MANE Select | NP_114116.3:p.Ser54Arg | |
| NM_182486.2:c.160A>C | NP_872292.1:p.Ser54Arg |