Linked Data
gnomAD v4:
1-15930504-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15930504C>A , CM000663.2:g.15930504C>A | GRCh38 |
| NC_000001.10:g.16256999C>A , CM000663.1:g.16256999C>A | GRCh37 |
| NC_000001.9:g.16129586C>A | NCBI36 |
| NG_050663.1:g.87641C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000438066.2:c.*5115C>A | ENSP00000388021.2:n.*5115C>A | |
| ENST00000375759.8:c.4264C>A MANE Select | ENSP00000364912.3:p.Leu1422Ile | |
| ENST00000375759.7:c.4264C>A | ENSP00000364912.3:p.Leu1422Ile | |
| NM_015001.2:c.4264C>A | NP_055816.2:p.Leu1422Ile | |
| NM_015001.3:c.4264C>A MANE Select | NP_055816.2:p.Leu1422Ile |