Linked Data
gnomAD v4:
12-48981368-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981368C>A , CM000674.2:g.48981368C>A | GRCh38 |
| NC_000012.11:g.49375151C>A , CM000674.1:g.49375151C>A | GRCh37 |
| NC_000012.10:g.47661418C>A | NCBI36 |
| NG_033141.1:g.7916C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.841C>A MANE Select | ENSP00000293549.3:p.His281Asn | |
| ENST00000293549.3:c.841C>A | ENSP00000293549.3:p.His281Asn | |
| ENST00000613114.4:c.827+14C>A | ENSP00000481240.1:n.827+14C>A | |
| NM_005430.3:c.841C>A | NP_005421.1:p.His281Asn | |
| NM_005430.4:c.841C>A MANE Select | NP_005421.1:p.His281Asn |