Linked Data
dbSNP Id:
rs553211668
ExAC:
11:67353660 A / G
gnomAD v2:
11-67353660-A-G
gnomAD v3:
11-67586189-A-G
gnomAD v4:
11-67586189-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586189A>G , CM000673.2:g.67586189A>G | GRCh38 |
| NC_000011.9:g.67353660A>G , CM000673.1:g.67353660A>G | GRCh37 |
| NC_000011.8:g.67110236A>G | NCBI36 |
| NG_012075.1:g.7595A>G , LRG_723:g.7595A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.337-200A>G | ENSP00000381604.1:n.337-200A>G | |
| ENST00000398606.10:c.422A>G MANE Select | ENSP00000381607.3:p.Lys141Arg | |
| ENST00000646888.1:c.*138A>G | ENSP00000494477.1:n.*138A>G | |
| ENST00000398603.5:c.337-200A>G | ENSP00000381604.1:n.337-200A>G | |
| ENST00000398606.7:c.422A>G | ENSP00000381607.3:p.Lys141Arg | |
| ENST00000467591.1:n.533A>G | ||
| ENST00000494593.1:n.1217A>G | ||
| ENST00000495996.1:c.86A>G | ENSP00000484686.1:p.Lys29Arg | |
| ENST00000498765.5:c.485A>G | ||
| NM_000852.3:c.422A>G , LRG_723t1:c.422A>G | NP_000843.1:p.Lys141Arg | |
| NM_000852.4:c.422A>G MANE Select | NP_000843.1:p.Lys141Arg |