Linked Data
dbSNP Id:
rs114413167
ExAC:
11:74907593 A / G
gnomAD v2:
11-74907593-A-G
gnomAD v3:
11-75196548-A-G
gnomAD v4:
11-75196548-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.75196548A>G , CM000673.2:g.75196548A>G | GRCh38 |
| NC_000011.9:g.74907593A>G , CM000673.1:g.74907593A>G | GRCh37 |
| NC_000011.8:g.74585241A>G | NCBI36 |
| NG_027921.1:g.50562A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000289575.10:c.1468A>G MANE Select | ENSP00000289575.5:p.Met490Val | |
| ENST00000289575.9:c.1468A>G | ENSP00000289575.5:p.Met490Val | |
| ENST00000428359.6:c.1402A>G | ENSP00000388912.2:p.Met468Val | |
| ENST00000454962.6:c.787A>G | ENSP00000389653.2:p.Met263Val | |
| ENST00000525650.5:c.1036A>G | ENSP00000436324.1:p.Met346Val | |
| ENST00000528108.1:n.274A>G | ||
| ENST00000530012.1:n.295A>G | ||
| ENST00000531756.5:n.1015A>G | ||
| ENST00000532236.5:c.1120A>G | ENSP00000434112.1:p.Met374Val | |
| NM_001145211.2:c.1402A>G | NP_001138683.1:p.Met468Val | |
| NM_001145212.2:c.1036A>G | NP_001138684.1:p.Met346Val | |
| NM_007256.4:c.1468A>G | NP_009187.1:p.Met490Val | |
| XM_017017157.1:c.1474A>G | XP_016872646.1:p.Met492Val | |
| NM_001145211.3:c.1402A>G | NP_001138683.1:p.Met468Val | |
| NM_001145212.3:c.1036A>G | NP_001138684.1:p.Met346Val | |
| NM_007256.5:c.1468A>G MANE Select | NP_009187.1:p.Met490Val |