Linked Data
gnomAD v4:
20-33675498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33675498C>T , CM000682.2:g.33675498C>T | GRCh38 |
| NC_000020.10:g.32263304C>T , CM000682.1:g.32263304C>T | GRCh37 |
| NC_000020.9:g.31726965C>T | NCBI36 |
| NG_046988.1:g.15907G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343380.6:c.*1234G>A MANE Select | ENSP00000345571.5:n.*1234G>A | |
| NM_005225.2:c.*1234G>A | NP_005216.1:n.*1234G>A | |
| NM_005225.3:c.*1234G>A MANE Select | NP_005216.1:n.*1234G>A |