Linked Data
dbSNP Id:
rs1430601148
gnomAD v2:
3-190126089-T-A
gnomAD v3:
3-190408300-T-A
gnomAD v4:
3-190408300-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408300T>A , CM000665.2:g.190408300T>A | GRCh38 |
| NC_000003.11:g.190126089T>A , CM000665.1:g.190126089T>A | GRCh37 |
| NC_000003.10:g.191608783T>A | NCBI36 |
| NG_008149.1:g.25249T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264734.3:c.383-14T>A MANE Select | ENSP00000264734.3:n.383-14T>A | |
| ENST00000456423.2:c.115-1603T>A | ENSP00000414136.2:n.115-1603T>A | |
| ENST00000264734.2:c.593-14T>A | ENSP00000264734.2:n.593-14T>A | |
| ENST00000456423.1:c.325-1603T>A | ENSP00000414136.1:n.325-1603T>A | |
| NM_006580.3:c.593-14T>A | NP_006571.1:n.593-14T>A | |
| NM_001378492.1:c.383-14T>A | NP_001365421.1:n.383-14T>A | |
| NM_001378493.1:c.383-14T>A | NP_001365422.1:n.383-14T>A | |
| NM_006580.4:c.383-14T>A MANE Select | NP_006571.2:n.383-14T>A |