Linked Data
dbSNP Id:
rs1443010416
gnomAD v2:
11-299375-C-A
gnomAD v3:
11-299375-C-A
gnomAD v4:
11-299375-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299375C>A , CM000673.2:g.299375C>A | GRCh38 |
| NC_000011.9:g.299375C>A , CM000673.1:g.299375C>A | GRCh37 |
| NC_000011.8:g.289375C>A | NCBI36 |
| NG_032892.1:g.5152G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.116G>T MANE Select | ENSP00000372059.2:p.Trp39Leu | |
| NM_001025295.2:c.116G>T | NP_001020466.1:p.Trp39Leu | |
| NM_001025295.3:c.116G>T MANE Select | NP_001020466.1:p.Trp39Leu |