Linked Data
gnomAD v4:
17-42404299-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404299G>T , CM000679.2:g.42404299G>T | GRCh38 |
| NC_000017.10:g.40556317G>T , CM000679.1:g.40556317G>T | GRCh37 |
| NC_000017.9:g.37809843G>T | NCBI36 |
| NG_015845.1:g.24022C>A | |
| NG_015845.2:g.24022C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.*388C>A MANE Select | ENSP00000349541.4:n.*388C>A | |
| ENST00000357037.5:c.*388C>A | ENSP00000349541.4:n.*388C>A | |
| NM_012232.5:c.*388C>A | NP_036364.2:n.*388C>A | |
| NM_012232.6:c.*388C>A MANE Select | NP_036364.2:n.*388C>A |