Linked Data
dbSNP Id:
rs765494608
ExAC:
22:42523947 G / A
gnomAD v2:
22-42523947-G-A
gnomAD v4:
22-42127945-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42127945G>A , CM000684.2:g.42127945G>A | GRCh38 |
| NC_000022.10:g.42523947G>A , CM000684.1:g.42523947G>A | GRCh37 |
| NC_000022.9:g.40853891G>A | NCBI36 |
| NG_008376.3:g.7047C>T | |
| NG_008376.4:g.7866C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.691-11C>T | ENSP00000353241.6:n.691-11C>T | |
| ENST00000645361.2:c.882C>T MANE Select | ENSP00000496150.1:p.Asn294= | |
| ENST00000359033.4:c.729C>T | ENSP00000351927.4:p.Asn243= | |
| ENST00000360124.9:c.511-11C>T | ENSP00000353241.5:n.511-11C>T | |
| ENST00000360608.9:c.882C>T | ENSP00000353820.5:p.Asn294= | |
| ENST00000389970.7:c.816C>T | ENSP00000374620.4:p.Asn272= | |
| ENST00000488442.1:n.1606C>T | ||
| NM_000106.5:c.882C>T | NP_000097.3:p.Asn294= | |
| NM_001025161.2:c.729C>T | NP_001020332.2:p.Asn243= | |
| XM_011529966.1:c.882C>T | XP_011528268.1:p.Asn294= | |
| XM_011529967.1:c.882C>T | XP_011528269.1:p.Asn294= | |
| XM_011529968.1:c.882C>T | XP_011528270.1:p.Asn294= | |
| XM_011529969.1:c.738C>T | XP_011528271.1:p.Asn246= | |
| XM_011529970.1:c.729C>T | XP_011528272.1:p.Asn243= | |
| XM_011529971.1:c.738C>T | XP_011528273.1:p.Asn246= | |
| XM_011529972.1:c.843+229C>T | XP_011528274.1:n.843+229C>T | |
| NM_000106.6:c.882C>T MANE Select | NP_000097.3:p.Asn294= | |
| NM_001025161.3:c.729C>T | NP_001020332.2:p.Asn243= |