Linked Data
dbSNP Id:
rs199567349
ExAC:
11:67353893 C / A
gnomAD v2:
11-67353893-C-A
gnomAD v3:
11-67586422-C-A
gnomAD v4:
11-67586422-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586422C>A , CM000673.2:g.67586422C>A | GRCh38 |
| NC_000011.9:g.67353893C>A , CM000673.1:g.67353893C>A | GRCh37 |
| NC_000011.8:g.67110469C>A | NCBI36 |
| NG_012075.1:g.7828C>A , LRG_723:g.7828C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.370C>A | ENSP00000381604.1:p.Leu124Met | |
| ENST00000398606.10:c.478C>A MANE Select | ENSP00000381607.3:p.Leu160Met | |
| ENST00000646888.1:c.*194C>A | ENSP00000494477.1:n.*194C>A | |
| ENST00000398603.5:c.370C>A | ENSP00000381604.1:p.Leu124Met | |
| ENST00000398606.7:c.478C>A | ENSP00000381607.3:p.Leu160Met | |
| ENST00000467591.1:n.589C>A | ||
| ENST00000494593.1:n.1450C>A | ||
| ENST00000495996.1:c.204C>A | ENSP00000484686.1:p.Cys68Ter | |
| ENST00000498765.5:c.541C>A | ||
| NM_000852.3:c.478C>A , LRG_723t1:c.478C>A | NP_000843.1:p.Leu160Met | |
| NM_000852.4:c.478C>A MANE Select | NP_000843.1:p.Leu160Met |