Linked Data
dbSNP Id:
rs13321783
gnomAD v2:
3-119615375-T-C
gnomAD v3:
3-119896528-T-C
gnomAD v4:
3-119896528-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119896528T>C , CM000665.2:g.119896528T>C | GRCh38 |
| NC_000003.11:g.119615375T>C , CM000665.1:g.119615375T>C | GRCh37 |
| NC_000003.10:g.121098065T>C | NCBI36 |
| NG_012922.1:g.202890A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264235.13:c.813+9227A>G MANE Select | ENSP00000264235.9:n.813+9227A>G | |
| ENST00000316626.6:c.813+9227A>G | ENSP00000324806.5:n.813+9227A>G | |
| ENST00000650344.2:c.813+9227A>G | ENSP00000497956.2:n.813+9227A>G | |
| ENST00000676566.1:n.639+9227A>G | ||
| ENST00000676887.1:c.131+19516A>G | ENSP00000502977.1:n.131+19516A>G | |
| ENST00000676948.1:c.154+4030A>G | ||
| ENST00000677046.1:c.98+9227A>G | ||
| ENST00000677069.1:c.98+9227A>G | ||
| ENST00000677362.1:c.107+16176A>G | ||
| ENST00000677483.1:c.98+9227A>G | ||
| ENST00000677502.1:n.596+9227A>G | ||
| ENST00000677648.1:c.98+9227A>G | ||
| ENST00000677716.1:c.131+19516A>G | ENSP00000503671.1:n.131+19516A>G | |
| ENST00000677788.1:n.1282+9227A>G | ||
| ENST00000677995.1:c.326+9227A>G | ENSP00000504203.1:n.326+9227A>G | |
| ENST00000678013.1:c.98+9227A>G | ||
| ENST00000678181.1:c.85-32923A>G | ENSP00000504266.1:n.85-32923A>G | |
| ENST00000678377.1:c.229+9227A>G | ENSP00000503164.1:n.229+9227A>G | |
| ENST00000678439.1:c.813+9227A>G | ENSP00000503868.1:n.813+9227A>G | |
| ENST00000678509.1:c.98+9227A>G | ||
| ENST00000678561.1:c.486+9227A>G | ENSP00000503494.1:n.486+9227A>G | |
| ENST00000678754.1:n.98+9227A>G | ||
| ENST00000678787.1:c.195-20020A>G | ||
| ENST00000679066.1:c.85-20020A>G | ENSP00000503626.1:n.85-20020A>G | |
| ENST00000679188.1:c.112-20020A>G | ENSP00000504252.1:n.112-20020A>G | |
| ENST00000679194.1:c.107+16176A>G | ||
| ENST00000679206.1:c.131+19516A>G | ENSP00000502943.1:n.131+19516A>G | |
| ENST00000264235.12:c.813+9227A>G | ENSP00000264235.8:n.813+9227A>G | |
| ENST00000316626.5:c.813+9227A>G | ENSP00000324806.5:n.813+9227A>G | |
| NM_001146156.1:c.813+9227A>G | NP_001139628.1:n.813+9227A>G | |
| NM_002093.3:c.813+9227A>G | NP_002084.2:n.813+9227A>G | |
| XM_006713610.1:c.813+9227A>G | XP_006713673.1:n.813+9227A>G | |
| XM_006713611.1:c.813+9227A>G | XP_006713674.1:n.813+9227A>G | |
| NM_001354596.1:c.813+9227A>G | NP_001341525.1:n.813+9227A>G | |
| XM_006713610.3:c.813+9227A>G | XP_006713673.1:n.813+9227A>G | |
| NM_001146156.2:c.813+9227A>G MANE Select | NP_001139628.1:n.813+9227A>G | |
| NM_001354596.2:c.813+9227A>G | NP_001341525.1:n.813+9227A>G | |
| NM_002093.4:c.813+9227A>G | NP_002084.2:n.813+9227A>G |