Linked Data
dbSNP Id:
rs1388516143
gnomAD v2:
2-185778288-C-A
gnomAD v3:
2-184913561-C-A
gnomAD v4:
2-184913561-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.184913561C>A , CM000664.2:g.184913561C>A | GRCh38 |
| NC_000002.11:g.185778288C>A , CM000664.1:g.185778288C>A | GRCh37 |
| NC_000002.10:g.185486533C>A | NCBI36 |
| NG_046950.1:g.320196C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302277.7:c.256-20042C>A MANE Select | ENSP00000303252.6:n.256-20042C>A | |
| ENST00000302277.6:c.256-20042C>A | ENSP00000303252.6:n.256-20042C>A | |
| ENST00000613975.1:c.1-20042C>A | ENSP00000483032.1:n.1-20042C>A | |
| NM_194250.1:c.256-20042C>A | NP_919226.1:n.256-20042C>A | |
| NM_194250.2:c.256-20042C>A MANE Select | NP_919226.1:n.256-20042C>A |