Linked Data
ClinVar Variation Id:
14825
dbSNP Id:
rs1064422
ExAC:
22:23915670 G / A
gnomAD v2:
22-23915670-G-A
gnomAD v3:
22-23573483-G-A
gnomAD v4:
22-23573483-G-A
PubMed:
PMID:9419212
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573483G>A , CM000684.2:g.23573483G>A | GRCh38 |
| NC_000022.10:g.23915670G>A , CM000684.1:g.23915670G>A | GRCh37 |
| NC_000022.9:g.22245670G>A | NCBI36 |
| NG_009791.1:g.11826C>T , LRG_69:g.11826C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330377.3:c.425C>T MANE Select | ENSP00000329312.2:p.Pro142Leu | |
| ENST00000249053.3:c.*54C>T | ENSP00000249053.3:n.*54C>T | |
| ENST00000330377.2:c.425C>T | ENSP00000329312.2:p.Pro142Leu | |
| ENST00000438703.1:c.428C>T | ENSP00000403391.1:p.Pro143Leu | |
| NM_020070.3:c.425C>T | NP_064455.1:p.Pro142Leu | |
| NM_152855.2:c.*54C>T | NP_690594.1:n.*54C>T | |
| XM_011530169.1:c.428C>T | XP_011528471.1:p.Pro143Leu | |
| XM_011530169.2:c.428C>T | XP_011528471.1:p.Pro143Leu | |
| NM_020070.4:c.425C>T MANE Select | NP_064455.1:p.Pro142Leu | |
| NM_001369906.1:c.428C>T | NP_001356835.1:p.Pro143Leu | |
| NM_152855.3:c.*54C>T | NP_690594.1:n.*54C>T |