Linked Data
gnomAD v4:
3-190387992-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190387992G>T , CM000665.2:g.190387992G>T | GRCh38 |
| NC_000003.11:g.190105781G>T , CM000665.1:g.190105781G>T | GRCh37 |
| NC_000003.10:g.191588475G>T | NCBI36 |
| NG_008149.1:g.4941G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-128G>T | ENSP00000264734.2:n.-128G>T | |
| ENST00000468220.1:n.306+13389G>T | ||
| NM_006580.3:c.-128G>T | NP_006571.1:n.-128G>T | |
| NM_001378492.1:c.-93-245G>T | NP_001365421.1:n.-93-245G>T | |
| NM_001378493.1:c.-93-245G>T | NP_001365422.1:n.-93-245G>T |