Linked Data
dbSNP Id:
rs146176472
ExAC:
5:1213687 A / G
gnomAD v2:
5-1213687-A-G
gnomAD v3:
5-1213572-A-G
gnomAD v4:
5-1213572-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213572A>G , CM000667.2:g.1213572A>G | GRCh38 |
| NC_000005.9:g.1213687A>G , CM000667.1:g.1213687A>G | GRCh37 |
| NC_000005.8:g.1266687A>G | NCBI36 |
| NG_008282.1:g.16978A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.773A>G MANE Select | ENSP00000305302.10:p.Asn258Ser | |
| ENST00000304460.10:c.773A>G | ENSP00000305302.10:p.Asn258Ser | |
| ENST00000515652.5:c.681A>G | ENSP00000425701.1:p.Gln227= | |
| NM_001003841.2:c.773A>G | NP_001003841.1:p.Asn258Ser | |
| NM_001003841.3:c.773A>G MANE Select | NP_001003841.1:p.Asn258Ser |