Linked Data
dbSNP Id:
rs1551943
gnomAD v2:
5-52195033-G-A
gnomAD v3:
5-52899203-G-A
gnomAD v4:
5-52899203-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52899203G>A , CM000667.2:g.52899203G>A | GRCh38 |
| NC_000005.9:g.52195033G>A , CM000667.1:g.52195033G>A | GRCh37 |
| NC_000005.8:g.52230790G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282588.7:c.1309+820G>A MANE Select | ENSP00000282588.5:n.1309+820G>A | |
| ENST00000650673.1:c.*471+820G>A | ENSP00000498529.1:n.*471+820G>A | |
| ENST00000282588.6:c.1309+820G>A | ENSP00000282588.5:n.1309+820G>A | |
| NM_181501.1:c.1309+820G>A | NP_852478.1:n.1309+820G>A | |
| NM_181501.2:c.1309+820G>A MANE Select | NP_852478.1:n.1309+820G>A |