Linked Data
dbSNP Id:
rs2495478
gnomAD v2:
1-55512995-G-A
gnomAD v3:
1-55047322-G-A
gnomAD v4:
1-55047322-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55047322G>A , CM000663.2:g.55047322G>A | GRCh38 |
| NC_000001.10:g.55512995G>A , CM000663.1:g.55512995G>A | GRCh37 |
| NC_000001.9:g.55285583G>A | NCBI36 |
| NG_009061.1:g.12776G>A , LRG_275:g.12776G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000673913.2:c.523+676G>A | ENSP00000501161.2:n.523+676G>A | |
| ENST00000710286.1:c.880+676G>A | ENSP00000518176.1:n.880+676G>A | |
| ENST00000673662.1:n.593G>A | ||
| ENST00000673726.1:c.523+676G>A | ENSP00000501004.1:n.523+676G>A | |
| ENST00000673903.1:c.148+676G>A | ENSP00000501257.1:n.148+676G>A | |
| ENST00000302118.5:c.523+676G>A MANE Select | ENSP00000303208.5:n.523+676G>A | |
| NM_174936.3:c.523+676G>A , LRG_275t1:c.523+676G>A | NP_777596.2:n.523+676G>A | |
| NR_110451.1:n.183-4956G>A | ||
| NM_174936.4:c.523+676G>A MANE Select | NP_777596.2:n.523+676G>A | |
| NR_110451.2:n.183-4956G>A |