Linked Data
dbSNP Id:
rs13423388
gnomAD v2:
2-185780225-G-A
gnomAD v3:
2-184915498-G-A
gnomAD v4:
2-184915498-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184915498G>A , CM000664.2:g.184915498G>A | GRCh38 |
| NC_000002.11:g.185780225G>A , CM000664.1:g.185780225G>A | GRCh37 |
| NC_000002.10:g.185488470G>A | NCBI36 |
| NG_046950.1:g.322133G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302277.7:c.256-18105G>A MANE Select | ENSP00000303252.6:n.256-18105G>A | |
| ENST00000302277.6:c.256-18105G>A | ENSP00000303252.6:n.256-18105G>A | |
| ENST00000613975.1:c.1-18105G>A | ENSP00000483032.1:n.1-18105G>A | |
| NM_194250.1:c.256-18105G>A | NP_919226.1:n.256-18105G>A | |
| NM_194250.2:c.256-18105G>A MANE Select | NP_919226.1:n.256-18105G>A |