Linked Data
gnomAD v4:
17-42184620-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184620C>A , CM000679.2:g.42184620C>A | GRCh38 |
| NC_000017.10:g.40336638C>A , CM000679.1:g.40336638C>A | GRCh37 |
| NC_000017.9:g.37590164C>A | NCBI36 |
| NG_011448.1:g.5833G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-92G>T MANE Select | ENSP00000293330.1:n.22-92G>T | |
| NM_001524.1:c.22-92G>T MANE Select | NP_001515.1:n.22-92G>T |