Linked Data
ClinVar Variation Id:
458179
dbSNP Id:
rs770860809
gnomAD v2:
13-48934242-A-G
gnomAD v4:
13-48360106-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48360106A>G , CM000675.2:g.48360106A>G | GRCh38 |
| NC_000013.10:g.48934242A>G , CM000675.1:g.48934242A>G | GRCh37 |
| NC_000013.9:g.47832243A>G | NCBI36 |
| NG_009009.1:g.61360A>G , LRG_517:g.61360A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.697A>G MANE Select | ENSP00000267163.4:p.Met233Val | |
| ENST00000650461.1:c.697A>G | ENSP00000497193.1:p.Met233Val | |
| ENST00000267163.4:c.697A>G | ENSP00000267163.4:p.Met233Val | |
| ENST00000467505.5:c.*65A>G | ENSP00000434702.1:n.*65A>G | |
| ENST00000525036.1:n.859A>G | ||
| NM_000321.2:c.697A>G , LRG_517t1:c.697A>G | NP_000312.2:p.Met233Val | |
| XM_011535171.1:c.436A>G | XP_011533473.1:p.Met146Val | |
| XM_011535171.2:c.436A>G | XP_011533473.1:p.Met146Val | |
| NM_000321.3:c.697A>G MANE Select | NP_000312.2:p.Met233Val |