Linked Data
dbSNP Id:
rs772943550
ExAC:
3:191093043 A / G
gnomAD v2:
3-191093043-A-G
gnomAD v3:
3-191375254-A-G
gnomAD v4:
3-191375254-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.191375254A>G , CM000665.2:g.191375254A>G | GRCh38 |
| NC_000003.11:g.191093043A>G , CM000665.1:g.191093043A>G | GRCh37 |
| NC_000003.10:g.192575737A>G | NCBI36 |
| NG_008994.1:g.51170A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392455.9:c.641A>G MANE Select | ENSP00000376249.4:p.Asp214Gly | |
| ENST00000392456.4:c.449-4905A>G | ENSP00000376250.4:n.449-4905A>G | |
| ENST00000392455.7:c.449-4905A>G | ENSP00000376249.3:n.449-4905A>G | |
| ENST00000392456.3:c.641A>G | ENSP00000376250.3:p.Asp214Gly | |
| NM_174908.3:c.449-4905A>G | NP_777568.1:n.449-4905A>G | |
| NM_178335.2:c.641A>G | NP_848018.1:p.Asp214Gly | |
| XM_011512460.1:c.641A>G | XP_011510762.1:p.Asp214Gly | |
| NM_178335.3:c.641A>G MANE Select | NP_848018.1:p.Asp214Gly | |
| NM_174908.4:c.449-4905A>G | NP_777568.1:n.449-4905A>G |