Linked Data
gnomAD v4:
12-6342115-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6342115G>T , CM000674.2:g.6342115G>T | GRCh38 |
| NC_000012.11:g.6451281G>T , CM000674.1:g.6451281G>T | GRCh37 |
| NC_000012.10:g.6321542G>T | NCBI36 |
| NG_007506.1:g.4981C>A , LRG_193:g.4981C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001065.3:c.-301C>A , LRG_193t1:c.-301C>A | NP_001056.1:n.-301C>A | |
| NM_001346091.1:c.-471C>A | NP_001333020.1:n.-471C>A | |
| NM_001346092.1:c.-878C>A | NP_001333021.1:n.-878C>A | |
| NR_144351.1:n.3C>A |