Linked Data
ClinVar Variation Id:
1915575
ClinVar RCV Id:
RCV002601587
dbSNP Id:
rs781387222
ExAC:
1:27099005 A / G
gnomAD v2:
1-27099005-A-G
gnomAD v3:
1-26772514-A-G
gnomAD v4:
1-26772514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26772514A>G , CM000663.2:g.26772514A>G | GRCh38 |
| NC_000001.10:g.27099005A>G , CM000663.1:g.27099005A>G | GRCh37 |
| NC_000001.9:g.26971592A>G | NCBI36 |
| NG_029965.1:g.81484A>G , LRG_875:g.81484A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.3421A>G MANE Select | ENSP00000320485.7:p.Met1141Val | |
| ENST00000374152.7:c.2272A>G | ENSP00000363267.2:p.Met758Val | |
| ENST00000430799.7:c.2272A>G | ENSP00000390317.3:p.Met758Val | |
| ENST00000636110.1:n.3341A>G | ||
| ENST00000636219.1:c.2278A>G | ENSP00000489842.1:p.Met760Val | |
| ENST00000324856.11:c.3421A>G | ENSP00000320485.7:p.Met1141Val | |
| ENST00000374152.6:c.2272A>G | ENSP00000363267.2:p.Met758Val | |
| ENST00000430799.6:c.113A>G | ||
| ENST00000457599.6:c.3421A>G | ENSP00000387636.2:p.Met1141Val | |
| ENST00000615191.4:c.2269A>G | ENSP00000478955.1:p.Met757Val | |
| NM_006015.4:c.3421A>G , LRG_875t1:c.3421A>G | NP_006006.3:p.Met1141Val | |
| NM_139135.2:c.3421A>G | NP_624361.1:p.Met1141Val | |
| NM_006015.5:c.3421A>G | NP_006006.3:p.Met1141Val | |
| NM_139135.3:c.3421A>G | NP_624361.1:p.Met1141Val | |
| NM_006015.6:c.3421A>G MANE Select | NP_006006.3:p.Met1141Val | |
| NM_139135.4:c.3421A>G | NP_624361.1:p.Met1141Val |