Linked Data
gnomAD v4:
17-72124005-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72124005C>A , CM000679.2:g.72124005C>A | GRCh38 |
| NC_000017.10:g.70120146C>A , CM000679.1:g.70120146C>A | GRCh37 |
| NC_000017.9:g.67631741C>A | NCBI36 |
| NG_012490.1:g.7986C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.1148C>A MANE Select | ENSP00000245479.2:p.Thr383Asn | |
| ENST00000245479.2:c.1148C>A | ENSP00000245479.2:p.Thr383Asn | |
| NM_000346.3:c.1148C>A | NP_000337.1:p.Thr383Asn | |
| NM_000346.4:c.1148C>A MANE Select | NP_000337.1:p.Thr383Asn |