Linked Data
dbSNP Id:
rs1935098564
gnomAD v4:
22-36564795-G-A
MyVariant Identifiers:
chr22:g.36960842G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564795G>A , CM000684.2:g.36564795G>A | GRCh38 |
| NC_000022.10:g.36960842G>A , CM000684.1:g.36960842G>A | GRCh37 |
| NC_000022.9:g.35290788G>A | NCBI36 |
| NG_031861.1:g.142849C>T | |
| NG_031861.2:g.143064C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.528C>T MANE Select | ENSP00000300105.6:p.Tyr176= | |
| ENST00000300105.6:c.528C>T | ENSP00000300105.6:p.Tyr176= | |
| NM_006078.3:c.528C>T | NP_006069.1:p.Tyr176= | |
| NM_006078.4:c.528C>T | NP_006069.1:p.Tyr176= | |
| XM_017028531.2:c.270C>T | XP_016884020.1:p.Tyr90= | |
| NM_001379051.1:c.459C>T | NP_001365980.1:p.Tyr153= | |
| NM_006078.5:c.528C>T MANE Select | NP_006069.1:p.Tyr176= | |
| NR_166440.1:n.1894C>T |