Linked Data
dbSNP Id:
rs1378729358
gnomAD v2:
2-185780212-C-G
gnomAD v3:
2-184915485-C-G
gnomAD v4:
2-184915485-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184915485C>G , CM000664.2:g.184915485C>G | GRCh38 |
| NC_000002.11:g.185780212C>G , CM000664.1:g.185780212C>G | GRCh37 |
| NC_000002.10:g.185488457C>G | NCBI36 |
| NG_046950.1:g.322120C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-18118C>G MANE Select | ENSP00000303252.6:n.256-18118C>G | |
| ENST00000302277.6:c.256-18118C>G | ENSP00000303252.6:n.256-18118C>G | |
| ENST00000613975.1:c.1-18118C>G | ENSP00000483032.1:n.1-18118C>G | |
| NM_194250.1:c.256-18118C>G | NP_919226.1:n.256-18118C>G | |
| NM_194250.2:c.256-18118C>G MANE Select | NP_919226.1:n.256-18118C>G |