Linked Data
gnomAD v4:
1-46413792-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46413792G>T , CM000663.2:g.46413792G>T | GRCh38 |
| NC_000001.10:g.46879464G>T , CM000663.1:g.46879464G>T | GRCh37 |
| NC_000001.9:g.46652051G>T | NCBI36 |
| NG_012195.1:g.24526G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000243167.9:c.*217G>T MANE Select | ENSP00000243167.8:n.*217G>T | |
| ENST00000243167.8:c.*217G>T | ENSP00000243167.8:n.*217G>T | |
| ENST00000484697.5:c.990G>T | ||
| NM_001441.2:c.*217G>T | NP_001432.2:n.*217G>T | |
| NM_001441.3:c.*217G>T MANE Select | NP_001432.2:n.*217G>T |