Linked Data
dbSNP Id:
rs1713054365
gnomAD v4:
3-191375210-A-G
MyVariant Identifiers:
chr3:g.191092999A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375210A>G , CM000665.2:g.191375210A>G | GRCh38 |
| NC_000003.11:g.191092999A>G , CM000665.1:g.191092999A>G | GRCh37 |
| NC_000003.10:g.192575693A>G | NCBI36 |
| NG_008994.1:g.51126A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.597A>G MANE Select | ENSP00000376249.4:p.Ser199= | |
| ENST00000392456.4:c.449-4949A>G | ENSP00000376250.4:n.449-4949A>G | |
| ENST00000392455.7:c.449-4949A>G | ENSP00000376249.3:n.449-4949A>G | |
| ENST00000392456.3:c.597A>G | ENSP00000376250.3:p.Ser199= | |
| NM_174908.3:c.449-4949A>G | NP_777568.1:n.449-4949A>G | |
| NM_178335.2:c.597A>G | NP_848018.1:p.Ser199= | |
| XM_011512460.1:c.597A>G | XP_011510762.1:p.Ser199= | |
| NM_178335.3:c.597A>G MANE Select | NP_848018.1:p.Ser199= | |
| NM_174908.4:c.449-4949A>G | NP_777568.1:n.449-4949A>G |