Linked Data
gnomAD v4:
3-190404828-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190404828C>A , CM000665.2:g.190404828C>A | GRCh38 |
| NC_000003.11:g.190122617C>A , CM000665.1:g.190122617C>A | GRCh37 |
| NC_000003.10:g.191605311C>A | NCBI36 |
| NG_008149.1:g.21777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.284C>A MANE Select | ENSP00000264734.3:p.Thr95Asn | |
| ENST00000456423.2:c.115-5075C>A | ENSP00000414136.2:n.115-5075C>A | |
| ENST00000264734.2:c.494C>A | ENSP00000264734.2:p.Thr165Asn | |
| ENST00000456423.1:c.325-5075C>A | ENSP00000414136.1:n.325-5075C>A | |
| ENST00000468220.1:n.476C>A | ||
| NM_006580.3:c.494C>A | NP_006571.1:p.Thr165Asn | |
| NM_001378492.1:c.284C>A | NP_001365421.1:p.Thr95Asn | |
| NM_001378493.1:c.284C>A | NP_001365422.1:p.Thr95Asn | |
| NM_006580.4:c.284C>A MANE Select | NP_006571.2:p.Thr95Asn |