Linked Data
dbSNP Id:
rs4074793
gnomAD v2:
5-52193125-A-G
gnomAD v3:
5-52897294-A-G
gnomAD v4:
5-52897294-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.52897294A>G , CM000667.2:g.52897294A>G | GRCh38 |
| NC_000005.9:g.52193125A>G , CM000667.1:g.52193125A>G | GRCh37 |
| NC_000005.8:g.52228882A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282588.7:c.1091-161A>G MANE Select | ENSP00000282588.5:n.1091-161A>G | |
| ENST00000650673.1:c.*253-161A>G | ENSP00000498529.1:n.*253-161A>G | |
| ENST00000282588.6:c.1091-161A>G | ENSP00000282588.5:n.1091-161A>G | |
| NM_181501.1:c.1091-161A>G | NP_852478.1:n.1091-161A>G | |
| NM_181501.2:c.1091-161A>G MANE Select | NP_852478.1:n.1091-161A>G |