Linked Data
dbSNP Id:
rs1158918261
gnomAD v2:
11-299461-G-T
gnomAD v3:
11-299461-G-T
gnomAD v4:
11-299461-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.299461G>T , CM000673.2:g.299461G>T | GRCh38 |
| NC_000011.9:g.299461G>T , CM000673.1:g.299461G>T | GRCh37 |
| NC_000011.8:g.289461G>T | NCBI36 |
| NG_032892.1:g.5066C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382614.2:c.30C>A MANE Select | ENSP00000372059.2:p.Thr10= | |
| NM_001025295.2:c.30C>A | NP_001020466.1:p.Thr10= | |
| NM_001025295.3:c.30C>A MANE Select | NP_001020466.1:p.Thr10= |