Linked Data
gnomAD v4:
3-190388115-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190388115G>C , CM000665.2:g.190388115G>C | GRCh38 |
| NC_000003.11:g.190105904G>C , CM000665.1:g.190105904G>C | GRCh37 |
| NC_000003.10:g.191588598G>C | NCBI36 |
| NG_008149.1:g.5064G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-5G>C | ENSP00000264734.2:n.-5G>C | |
| ENST00000468220.1:n.306+13512G>C | ||
| NM_006580.3:c.-5G>C | NP_006571.1:n.-5G>C | |
| NM_001378492.1:c.-93-122G>C | NP_001365421.1:n.-93-122G>C | |
| NM_001378493.1:c.-93-122G>C | NP_001365422.1:n.-93-122G>C |