Linked Data
gnomAD v4:
13-46897062-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.46897062C>A , CM000675.2:g.46897062C>A | GRCh38 |
| NC_000013.10:g.47471197C>A , CM000675.1:g.47471197C>A | GRCh37 |
| NC_000013.9:g.46369198C>A | NCBI36 |
| NG_013011.1:g.4973G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543956.5:c.-466G>T | ENSP00000441861.2:n.-466G>T | |
| ENST00000542664.3:c.-717G>T | ENSP00000437737.1:n.-717G>T | |
| ENST00000543956.4:c.-229G>T | ENSP00000441861.1:n.-229G>T | |
| NM_000621.4:c.-717G>T | NP_000612.1:n.-717G>T | |
| NM_001165947.2:c.-229G>T | NP_001159419.1:n.-229G>T | |
| NM_001378924.1:c.-328-828G>T | NP_001365853.1:n.-328-828G>T |