Linked Data
dbSNP Id:
rs1247344619
gnomAD v2:
11-67353985-C-G
gnomAD v4:
11-67586514-C-G
COSMIC:
COSM458425
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586514C>G , CM000673.2:g.67586514C>G | GRCh38 |
| NC_000011.9:g.67353985C>G , CM000673.1:g.67353985C>G | GRCh37 |
| NC_000011.8:g.67110561C>G | NCBI36 |
| NG_012075.1:g.7920C>G , LRG_723:g.7920C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.462C>G | ENSP00000381604.1:p.Leu154= | |
| ENST00000398606.10:c.570C>G MANE Select | ENSP00000381607.3:p.Leu190= | |
| ENST00000398603.5:c.462C>G | ENSP00000381604.1:p.Leu154= | |
| ENST00000398606.7:c.570C>G | ENSP00000381607.3:p.Leu190= | |
| ENST00000467591.1:n.681C>G | ||
| ENST00000494593.1:n.1542C>G | ||
| ENST00000498765.5:c.633C>G | ||
| NM_000852.3:c.570C>G , LRG_723t1:c.570C>G | NP_000843.1:p.Leu190= | |
| NM_000852.4:c.570C>G MANE Select | NP_000843.1:p.Leu190= |