Linked Data
gnomAD v4:
4-67740272-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740272G>A , CM000666.2:g.67740272G>A | GRCh38 |
| NC_000004.11:g.68605990G>A , CM000666.1:g.68605990G>A | GRCh37 |
| NC_000004.10:g.68288585G>A | NCBI36 |
| NG_009293.1:g.20815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.*208C>T MANE Select | ENSP00000226413.5:n.*208C>T | |
| ENST00000226413.4:c.*208C>T | ENSP00000226413.4:n.*208C>T | |
| NM_000406.2:c.*208C>T | NP_000397.1:n.*208C>T | |
| NM_001012763.1:c.*317C>T | NP_001012781.1:n.*317C>T | |
| NM_000406.3:c.*208C>T MANE Select | NP_000397.1:n.*208C>T | |
| NM_001012763.2:c.*317C>T | NP_001012781.1:n.*317C>T |