Linked Data
dbSNP Id:
rs1379175080
gnomAD v2:
11-67352325-G-A
gnomAD v3:
11-67584854-G-A
gnomAD v4:
11-67584854-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67584854G>A , CM000673.2:g.67584854G>A | GRCh38 |
| NC_000011.9:g.67352325G>A , CM000673.1:g.67352325G>A | GRCh37 |
| NC_000011.8:g.67108901G>A | NCBI36 |
| NG_012075.1:g.6260G>A , LRG_723:g.6260G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.232+82G>A | ENSP00000381604.1:n.232+82G>A | |
| ENST00000398606.10:c.232+82G>A MANE Select | ENSP00000381607.3:n.232+82G>A | |
| ENST00000646888.1:c.125+82G>A | ENSP00000494477.1:n.125+82G>A | |
| ENST00000398603.5:c.232+82G>A | ENSP00000381604.1:n.232+82G>A | |
| ENST00000398606.7:c.232+82G>A | ENSP00000381607.3:n.232+82G>A | |
| ENST00000467591.1:n.60G>A | ||
| ENST00000489040.1:n.313G>A | ||
| ENST00000494593.1:n.744G>A | ||
| ENST00000498765.5:c.195+82G>A | ||
| NM_000852.3:c.232+82G>A , LRG_723t1:c.232+82G>A | NP_000843.1:n.232+82G>A | |
| NM_000852.4:c.232+82G>A MANE Select | NP_000843.1:n.232+82G>A |