Linked Data
dbSNP Id:
rs771598194
ExAC:
22:36960891 T / C
gnomAD v2:
22-36960891-T-C
gnomAD v4:
22-36564844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564844T>C , CM000684.2:g.36564844T>C | GRCh38 |
| NC_000022.10:g.36960891T>C , CM000684.1:g.36960891T>C | GRCh37 |
| NC_000022.9:g.35290837T>C | NCBI36 |
| NG_031861.1:g.142800A>G | |
| NG_031861.2:g.143015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.479A>G MANE Select | ENSP00000300105.6:p.Asn160Ser | |
| ENST00000300105.6:c.479A>G | ENSP00000300105.6:p.Asn160Ser | |
| NM_006078.3:c.479A>G | NP_006069.1:p.Asn160Ser | |
| NM_006078.4:c.479A>G | NP_006069.1:p.Asn160Ser | |
| XM_017028531.2:c.221A>G | XP_016884020.1:p.Asn74Ser | |
| NM_001379051.1:c.410A>G | NP_001365980.1:p.Asn137Ser | |
| NM_006078.5:c.479A>G MANE Select | NP_006069.1:p.Asn160Ser | |
| NR_166440.1:n.1845A>G |