Linked Data
dbSNP Id:
rs535062605
ExAC:
22:36960845 T / C
gnomAD v2:
22-36960845-T-C
gnomAD v3:
22-36564798-T-C
gnomAD v4:
22-36564798-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564798T>C , CM000684.2:g.36564798T>C | GRCh38 |
| NC_000022.10:g.36960845T>C , CM000684.1:g.36960845T>C | GRCh37 |
| NC_000022.9:g.35290791T>C | NCBI36 |
| NG_031861.1:g.142846A>G | |
| NG_031861.2:g.143061A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.525A>G MANE Select | ENSP00000300105.6:p.Ser175= | |
| ENST00000300105.6:c.525A>G | ENSP00000300105.6:p.Ser175= | |
| NM_006078.3:c.525A>G | NP_006069.1:p.Ser175= | |
| NM_006078.4:c.525A>G | NP_006069.1:p.Ser175= | |
| XM_017028531.2:c.267A>G | XP_016884020.1:p.Ser89= | |
| NM_001379051.1:c.456A>G | NP_001365980.1:p.Ser152= | |
| NM_006078.5:c.525A>G MANE Select | NP_006069.1:p.Ser175= | |
| NR_166440.1:n.1891A>G |