Linked Data
dbSNP Id:
rs1805352
ExAC:
9:137299949 C / A
gnomAD v2:
9-137299949-C-A
gnomAD v3:
9-134408103-C-A
gnomAD v4:
9-134408103-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408103C>A , CM000671.2:g.134408103C>A | GRCh38 |
| NC_000009.11:g.137299949C>A , CM000671.1:g.137299949C>A | GRCh37 |
| NC_000009.10:g.136439770C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481739.2:c.280-46C>A MANE Select | ENSP00000419692.1:n.280-46C>A | |
| ENST00000672570.1:c.199-46C>A | ENSP00000500402.1:n.199-46C>A | |
| ENST00000356384.4:n.690-46C>A | ||
| ENST00000481739.1:c.280-46C>A | ENSP00000419692.1:n.280-46C>A | |
| NM_001291920.1:c.199-46C>A | NP_001278849.1:n.199-46C>A | |
| NM_001291921.1:c.-12-46C>A | NP_001278850.1:n.-12-46C>A | |
| NM_002957.5:c.280-46C>A | NP_002948.1:n.280-46C>A | |
| NM_002957.6:c.280-46C>A MANE Select | NP_002948.1:n.280-46C>A | |
| NM_001291921.2:c.-12-46C>A | NP_001278850.1:n.-12-46C>A | |
| NM_001291920.2:c.199-46C>A | NP_001278849.1:n.199-46C>A |