Linked Data
dbSNP Id:
rs1232474872
gnomAD v2:
11-67352760-G-A
gnomAD v3:
11-67585289-G-A
gnomAD v4:
11-67585289-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585289G>A , CM000673.2:g.67585289G>A | GRCh38 |
| NC_000011.9:g.67352760G>A , CM000673.1:g.67352760G>A | GRCh37 |
| NC_000011.8:g.67109336G>A | NCBI36 |
| NG_012075.1:g.6695G>A , LRG_723:g.6695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.336+48G>A | ENSP00000381604.1:n.336+48G>A | |
| ENST00000398606.10:c.336+48G>A MANE Select | ENSP00000381607.3:n.336+48G>A | |
| ENST00000646888.1:c.*52+48G>A | ENSP00000494477.1:n.*52+48G>A | |
| ENST00000398603.5:c.336+48G>A | ENSP00000381604.1:n.336+48G>A | |
| ENST00000398606.7:c.336+48G>A | ENSP00000381607.3:n.336+48G>A | |
| ENST00000467591.1:n.447+48G>A | ||
| ENST00000494593.1:n.1131+48G>A | ||
| ENST00000498765.5:c.399+48G>A | ||
| NM_000852.3:c.336+48G>A , LRG_723t1:c.336+48G>A | NP_000843.1:n.336+48G>A | |
| NM_000852.4:c.336+48G>A MANE Select | NP_000843.1:n.336+48G>A |