Linked Data
dbSNP Id:
rs748431364
ExAC:
22:36960683 G / A
gnomAD v2:
22-36960683-G-A
gnomAD v4:
22-36564636-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564636G>A , CM000684.2:g.36564636G>A | GRCh38 |
| NC_000022.10:g.36960683G>A , CM000684.1:g.36960683G>A | GRCh37 |
| NC_000022.9:g.35290629G>A | NCBI36 |
| NG_031861.1:g.143008C>T | |
| NG_031861.2:g.143223C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.687C>T MANE Select | ENSP00000300105.6:p.Tyr229= | |
| ENST00000300105.6:c.687C>T | ENSP00000300105.6:p.Tyr229= | |
| NM_006078.3:c.687C>T | NP_006069.1:p.Tyr229= | |
| NM_006078.4:c.687C>T | NP_006069.1:p.Tyr229= | |
| XM_017028531.2:c.429C>T | XP_016884020.1:p.Tyr143= | |
| NM_001379051.1:c.618C>T | NP_001365980.1:p.Tyr206= | |
| NM_006078.5:c.687C>T MANE Select | NP_006069.1:p.Tyr229= | |
| NR_166440.1:n.2053C>T |