Linked Data
gnomAD v4:
12-48981574-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.48981574C>A , CM000674.2:g.48981574C>A | GRCh38 |
| NC_000012.11:g.49375357C>A , CM000674.1:g.49375357C>A | GRCh37 |
| NC_000012.10:g.47661624C>A | NCBI36 |
| NG_033141.1:g.8122C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293549.4:c.1047C>A MANE Select | ENSP00000293549.3:p.Phe349Leu | |
| ENST00000293549.3:c.1047C>A | ENSP00000293549.3:p.Phe349Leu | |
| ENST00000613114.4:c.1014C>A | ENSP00000481240.1:p.Phe338Leu | |
| NM_005430.3:c.1047C>A | NP_005421.1:p.Phe349Leu | |
| NM_005430.4:c.1047C>A MANE Select | NP_005421.1:p.Phe349Leu |