Linked Data
gnomAD v4:
19-3926045-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3926045C>T , CM000681.2:g.3926045C>T | GRCh38 |
| NC_000019.9:g.3926043C>T , CM000681.1:g.3926043C>T | GRCh37 |
| NC_000019.8:g.3877043C>T | NCBI36 |
| NG_012638.1:g.50426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450849.7:c.*1453C>T MANE Select | ENSP00000390941.1:n.*1453C>T | |
| ENST00000450849.6:c.*1453C>T | ENSP00000390941.1:n.*1453C>T | |
| ENST00000600960.1:c.2633C>T | ENSP00000470842.1:n.2633C>T | |
| ENST00000601323.1:n.440-213C>T | ||
| NM_033064.4:c.*1453C>T | NP_149053.1:n.*1453C>T | |
| NM_033064.5:c.*1453C>T MANE Select | NP_149053.1:n.*1453C>T |