Linked Data
dbSNP Id:
rs768664932
ExAC:
22:42524854 G / C
gnomAD v2:
22-42524854-G-C
gnomAD v4:
22-42128852-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128852G>C , CM000684.2:g.42128852G>C | GRCh38 |
| NC_000022.10:g.42524854G>C , CM000684.1:g.42524854G>C | GRCh37 |
| NC_000022.9:g.40854798G>C | NCBI36 |
| NG_008376.3:g.6140C>G | |
| NG_008376.4:g.6959C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.445C>G | ENSP00000353241.6:p.Pro149Ala | |
| ENST00000645361.2:c.598C>G MANE Select | ENSP00000496150.1:p.Pro200Ala | |
| ENST00000359033.4:c.445C>G | ENSP00000351927.4:p.Pro149Ala | |
| ENST00000360124.9:c.265C>G | ENSP00000353241.5:p.Pro89Ala | |
| ENST00000360608.9:c.598C>G | ENSP00000353820.5:p.Pro200Ala | |
| ENST00000389970.7:c.532C>G | ENSP00000374620.4:p.Pro178Ala | |
| ENST00000488442.1:n.1322C>G | ||
| NM_000106.5:c.598C>G | NP_000097.3:p.Pro200Ala | |
| NM_001025161.2:c.445C>G | NP_001020332.2:p.Pro149Ala | |
| XM_011529966.1:c.598C>G | XP_011528268.1:p.Pro200Ala | |
| XM_011529967.1:c.598C>G | XP_011528269.1:p.Pro200Ala | |
| XM_011529968.1:c.598C>G | XP_011528270.1:p.Pro200Ala | |
| XM_011529969.1:c.454C>G | XP_011528271.1:p.Pro152Ala | |
| XM_011529970.1:c.445C>G | XP_011528272.1:p.Pro149Ala | |
| XM_011529971.1:c.454C>G | XP_011528273.1:p.Pro152Ala | |
| XM_011529972.1:c.598C>G | XP_011528274.1:p.Pro200Ala | |
| NM_000106.6:c.598C>G MANE Select | NP_000097.3:p.Pro200Ala | |
| NM_001025161.3:c.445C>G | NP_001020332.2:p.Pro149Ala |