Linked Data
gnomAD v4:
3-190387973-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190387973C>A , CM000665.2:g.190387973C>A | GRCh38 |
| NC_000003.11:g.190105762C>A , CM000665.1:g.190105762C>A | GRCh37 |
| NC_000003.10:g.191588456C>A | NCBI36 |
| NG_008149.1:g.4922C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-147C>A | ENSP00000264734.2:n.-147C>A | |
| ENST00000468220.1:n.306+13370C>A | ||
| NM_006580.3:c.-147C>A | NP_006571.1:n.-147C>A | |
| NM_001378492.1:c.-93-264C>A | NP_001365421.1:n.-93-264C>A | |
| NM_001378493.1:c.-93-264C>A | NP_001365422.1:n.-93-264C>A |