Linked Data
dbSNP Id:
rs772892788
ExAC:
1:168262460 A / G
gnomAD v2:
1-168262460-A-G
gnomAD v4:
1-168293222-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.168293222A>G , CM000663.2:g.168293222A>G | GRCh38 |
| NC_000001.10:g.168262460A>G , CM000663.1:g.168262460A>G | GRCh37 |
| NC_000001.9:g.166529084A>G | NCBI36 |
| NG_008244.1:g.17183A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367821.8:c.547A>G MANE Select | ENSP00000356795.3:p.Asn183Asp | |
| ENST00000367821.7:c.547A>G | ENSP00000356795.3:p.Asn183Asp | |
| ENST00000431969.5:c.344A>G | ||
| NM_005149.2:c.547A>G | NP_005140.1:p.Asn183Asp | |
| NM_005149.3:c.547A>G MANE Select | NP_005140.1:p.Asn183Asp |