Linked Data
gnomAD v4:
12-6342109-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6342109C>A , CM000674.2:g.6342109C>A | GRCh38 |
| NC_000012.11:g.6451275C>A , CM000674.1:g.6451275C>A | GRCh37 |
| NC_000012.10:g.6321536C>A | NCBI36 |
| NG_007506.1:g.4987G>T , LRG_193:g.4987G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000162749.6:c.-295G>T | ENSP00000162749.2:n.-295G>T | |
| ENST00000534885.5:c.-295G>T | ENSP00000441803.1:n.-295G>T | |
| NM_001065.3:c.-295G>T , LRG_193t1:c.-295G>T | NP_001056.1:n.-295G>T | |
| NM_001346091.1:c.-465G>T | NP_001333020.1:n.-465G>T | |
| NM_001346092.1:c.-872G>T | NP_001333021.1:n.-872G>T | |
| NR_144351.1:n.9G>T |