Linked Data
dbSNP Id:
rs377297283
ExAC:
11:67353911 C / G
gnomAD v2:
11-67353911-C-G
gnomAD v3:
11-67586440-C-G
gnomAD v4:
11-67586440-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586440C>G , CM000673.2:g.67586440C>G | GRCh38 |
| NC_000011.9:g.67353911C>G , CM000673.1:g.67353911C>G | GRCh37 |
| NC_000011.8:g.67110487C>G | NCBI36 |
| NG_012075.1:g.7846C>G , LRG_723:g.7846C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.388C>G | ENSP00000381604.1:p.Leu130Val | |
| ENST00000398606.10:c.496C>G MANE Select | ENSP00000381607.3:p.Leu166Val | |
| ENST00000646888.1:c.*212C>G | ENSP00000494477.1:n.*212C>G | |
| ENST00000398603.5:c.388C>G | ENSP00000381604.1:p.Leu130Val | |
| ENST00000398606.7:c.496C>G | ENSP00000381607.3:p.Leu166Val | |
| ENST00000467591.1:n.607C>G | ||
| ENST00000494593.1:n.1468C>G | ||
| ENST00000498765.5:c.559C>G | ||
| NM_000852.3:c.496C>G , LRG_723t1:c.496C>G | NP_000843.1:p.Leu166Val | |
| NM_000852.4:c.496C>G MANE Select | NP_000843.1:p.Leu166Val |