Linked Data
dbSNP Id:
rs149300955
ExAC:
22:42524857 C / A
gnomAD v2:
22-42524857-C-A
gnomAD v3:
22-42128855-C-A
gnomAD v4:
22-42128855-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128855C>A , CM000684.2:g.42128855C>A | GRCh38 |
| NC_000022.10:g.42524857C>A , CM000684.1:g.42524857C>A | GRCh37 |
| NC_000022.9:g.40854801C>A | NCBI36 |
| NG_008376.3:g.6137G>T | |
| NG_008376.4:g.6956G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.442G>T | ENSP00000353241.6:p.Asp148Tyr | |
| ENST00000645361.2:c.595G>T MANE Select | ENSP00000496150.1:p.Asp199Tyr | |
| ENST00000359033.4:c.442G>T | ENSP00000351927.4:p.Asp148Tyr | |
| ENST00000360124.9:c.262G>T | ENSP00000353241.5:p.Asp88Tyr | |
| ENST00000360608.9:c.595G>T | ENSP00000353820.5:p.Asp199Tyr | |
| ENST00000389970.7:c.529G>T | ENSP00000374620.4:p.Asp177Tyr | |
| ENST00000488442.1:n.1319G>T | ||
| NM_000106.5:c.595G>T | NP_000097.3:p.Asp199Tyr | |
| NM_001025161.2:c.442G>T | NP_001020332.2:p.Asp148Tyr | |
| XM_011529966.1:c.595G>T | XP_011528268.1:p.Asp199Tyr | |
| XM_011529967.1:c.595G>T | XP_011528269.1:p.Asp199Tyr | |
| XM_011529968.1:c.595G>T | XP_011528270.1:p.Asp199Tyr | |
| XM_011529969.1:c.451G>T | XP_011528271.1:p.Asp151Tyr | |
| XM_011529970.1:c.442G>T | XP_011528272.1:p.Asp148Tyr | |
| XM_011529971.1:c.451G>T | XP_011528273.1:p.Asp151Tyr | |
| XM_011529972.1:c.595G>T | XP_011528274.1:p.Asp199Tyr | |
| NM_000106.6:c.595G>T MANE Select | NP_000097.3:p.Asp199Tyr | |
| NM_001025161.3:c.442G>T | NP_001020332.2:p.Asp148Tyr |