Linked Data
dbSNP Id:
rs2134395201
gnomAD v4:
11-67586115-G-A
MyVariant Identifiers:
chr11:g.67353586G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67586115G>A , CM000673.2:g.67586115G>A | GRCh38 |
| NC_000011.9:g.67353586G>A , CM000673.1:g.67353586G>A | GRCh37 |
| NC_000011.8:g.67110162G>A | NCBI36 |
| NG_012075.1:g.7521G>A , LRG_723:g.7521G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000398603.6:c.337-274G>A | ENSP00000381604.1:n.337-274G>A | |
| ENST00000398606.10:c.348G>A MANE Select | ENSP00000381607.3:p.Lys116= | |
| ENST00000646888.1:c.*64G>A | ENSP00000494477.1:n.*64G>A | |
| ENST00000398603.5:c.337-274G>A | ENSP00000381604.1:n.337-274G>A | |
| ENST00000398606.7:c.348G>A | ENSP00000381607.3:p.Lys116= | |
| ENST00000467591.1:n.459G>A | ||
| ENST00000494593.1:n.1143G>A | ||
| ENST00000495996.1:c.12G>A | ENSP00000484686.1:p.Lys4= | |
| ENST00000498765.5:c.411G>A | ||
| NM_000852.3:c.348G>A , LRG_723t1:c.348G>A | NP_000843.1:p.Lys116= | |
| NM_000852.4:c.348G>A MANE Select | NP_000843.1:p.Lys116= |