Linked Data
dbSNP Id:
rs1438281107
gnomAD v2:
1-27105691-C-G
gnomAD v3:
1-26779200-C-G
gnomAD v4:
1-26779200-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26779200C>G , CM000663.2:g.26779200C>G | GRCh38 |
| NC_000001.10:g.27105691C>G , CM000663.1:g.27105691C>G | GRCh37 |
| NC_000001.9:g.26978278C>G | NCBI36 |
| NG_029965.1:g.88170C>G , LRG_875:g.88170C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.5302C>G MANE Select | ENSP00000320485.7:p.Leu1768Val | |
| ENST00000374152.7:c.4153C>G | ENSP00000363267.2:p.Leu1385Val | |
| ENST00000430799.7:c.4150C>G | ENSP00000390317.3:p.Leu1384Val | |
| ENST00000466382.2:c.719C>G | ||
| ENST00000636219.1:c.4156C>G | ENSP00000489842.1:p.Leu1386Val | |
| ENST00000637788.1:n.1102C>G | ||
| ENST00000324856.11:c.5302C>G | ENSP00000320485.7:p.Leu1768Val | |
| ENST00000374152.6:c.4153C>G | ENSP00000363267.2:p.Leu1385Val | |
| ENST00000430799.6:c.1991C>G | ||
| ENST00000457599.6:c.4651C>G | ENSP00000387636.2:p.Leu1551Val | |
| ENST00000466382.1:c.719C>G | ||
| ENST00000532781.1:c.800C>G | ||
| NM_006015.4:c.5302C>G , LRG_875t1:c.5302C>G | NP_006006.3:p.Leu1768Val | |
| NM_139135.2:c.4651C>G | NP_624361.1:p.Leu1551Val | |
| NM_006015.5:c.5302C>G | NP_006006.3:p.Leu1768Val | |
| NM_139135.3:c.4651C>G | NP_624361.1:p.Leu1551Val | |
| NM_006015.6:c.5302C>G MANE Select | NP_006006.3:p.Leu1768Val | |
| NM_139135.4:c.4651C>G | NP_624361.1:p.Leu1551Val |