Linked Data
ClinVar Variation Id:
828883
ClinVar RCV Id:
RCV001028796
dbSNP Id:
rs1341003897
gnomAD v2:
22-42524225-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42128223G>A , CM000684.2:g.42128223G>A | GRCh38 |
| NC_000022.10:g.42524225G>A , CM000684.1:g.42524225G>A | GRCh37 |
| NC_000022.9:g.40854169G>A | NCBI36 |
| NG_008376.3:g.6769C>T | |
| NG_008376.4:g.7588C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.641C>T | ENSP00000353241.6:p.Ala214Val | |
| ENST00000645361.2:c.794C>T MANE Select | ENSP00000496150.1:p.Ala265Val | |
| ENST00000359033.4:c.641C>T | ENSP00000351927.4:p.Ala214Val | |
| ENST00000360124.9:c.461C>T | ENSP00000353241.5:p.Ala154Val | |
| ENST00000360608.9:c.794C>T | ENSP00000353820.5:p.Ala265Val | |
| ENST00000389970.7:c.728C>T | ENSP00000374620.4:p.Ala243Val | |
| ENST00000488442.1:n.1518C>T | ||
| NM_000106.5:c.794C>T | NP_000097.3:p.Ala265Val | |
| NM_001025161.2:c.641C>T | NP_001020332.2:p.Ala214Val | |
| XM_011529966.1:c.794C>T | XP_011528268.1:p.Ala265Val | |
| XM_011529967.1:c.794C>T | XP_011528269.1:p.Ala265Val | |
| XM_011529968.1:c.794C>T | XP_011528270.1:p.Ala265Val | |
| XM_011529969.1:c.650C>T | XP_011528271.1:p.Ala217Val | |
| XM_011529970.1:c.641C>T | XP_011528272.1:p.Ala214Val | |
| XM_011529971.1:c.650C>T | XP_011528273.1:p.Ala217Val | |
| XM_011529972.1:c.794C>T | XP_011528274.1:p.Ala265Val | |
| NM_000106.6:c.794C>T MANE Select | NP_000097.3:p.Ala265Val | |
| NM_001025161.3:c.641C>T | NP_001020332.2:p.Ala214Val |