Linked Data
gnomAD v4:
19-3926040-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3926040T>C , CM000681.2:g.3926040T>C | GRCh38 |
| NC_000019.9:g.3926038T>C , CM000681.1:g.3926038T>C | GRCh37 |
| NC_000019.8:g.3877038T>C | NCBI36 |
| NG_012638.1:g.50421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450849.7:c.*1448T>C MANE Select | ENSP00000390941.1:n.*1448T>C | |
| ENST00000450849.6:c.*1448T>C | ENSP00000390941.1:n.*1448T>C | |
| ENST00000600960.1:c.2628T>C | ENSP00000470842.1:n.2628T>C | |
| ENST00000601323.1:n.440-218T>C | ||
| NM_033064.4:c.*1448T>C | NP_149053.1:n.*1448T>C | |
| NM_033064.5:c.*1448T>C MANE Select | NP_149053.1:n.*1448T>C |