Linked Data
dbSNP Id:
rs567340138
ExAC:
22:42523973 G / T
gnomAD v2:
22-42523973-G-T
gnomAD v3:
22-42127971-G-T
gnomAD v4:
22-42127971-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127971G>T , CM000684.2:g.42127971G>T | GRCh38 |
| NC_000022.10:g.42523973G>T , CM000684.1:g.42523973G>T | GRCh37 |
| NC_000022.9:g.40853917G>T | NCBI36 |
| NG_008376.3:g.7021C>A | |
| NG_008376.4:g.7840C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.691-37C>A | ENSP00000353241.6:n.691-37C>A | |
| ENST00000645361.2:c.856C>A MANE Select | ENSP00000496150.1:p.Pro286Thr | |
| ENST00000359033.4:c.703C>A | ENSP00000351927.4:p.Pro235Thr | |
| ENST00000360124.9:c.511-37C>A | ENSP00000353241.5:n.511-37C>A | |
| ENST00000360608.9:c.856C>A | ENSP00000353820.5:p.Pro286Thr | |
| ENST00000389970.7:c.790C>A | ENSP00000374620.4:p.Pro264Thr | |
| ENST00000488442.1:n.1580C>A | ||
| NM_000106.5:c.856C>A | NP_000097.3:p.Pro286Thr | |
| NM_001025161.2:c.703C>A | NP_001020332.2:p.Pro235Thr | |
| XM_011529966.1:c.856C>A | XP_011528268.1:p.Pro286Thr | |
| XM_011529967.1:c.856C>A | XP_011528269.1:p.Pro286Thr | |
| XM_011529968.1:c.856C>A | XP_011528270.1:p.Pro286Thr | |
| XM_011529969.1:c.712C>A | XP_011528271.1:p.Pro238Thr | |
| XM_011529970.1:c.703C>A | XP_011528272.1:p.Pro235Thr | |
| XM_011529971.1:c.712C>A | XP_011528273.1:p.Pro238Thr | |
| XM_011529972.1:c.843+203C>A | XP_011528274.1:n.843+203C>A | |
| NM_000106.6:c.856C>A MANE Select | NP_000097.3:p.Pro286Thr | |
| NM_001025161.3:c.703C>A | NP_001020332.2:p.Pro235Thr |