Linked Data
gnomAD v4:
15-66703290-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703290G>T , CM000677.2:g.66703290G>T | GRCh38 |
| NC_000015.9:g.66995628G>T , CM000677.1:g.66995628G>T | GRCh37 |
| NC_000015.8:g.64782682G>T | NCBI36 |
| NG_012244.1:g.5955G>T | |
| NG_012244.2:g.5955G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.32G>T MANE Select | ENSP00000288840.5:p.Arg11Leu | |
| ENST00000288840.9:c.32G>T | ENSP00000288840.5:p.Arg11Leu | |
| ENST00000557916.5:c.32G>T | ENSP00000452955.1:p.Arg11Leu | |
| ENST00000612349.1:n.214G>T | ||
| NM_005585.4:c.32G>T | NP_005576.3:p.Arg11Leu | |
| NR_027654.1:n.955G>T | ||
| XR_931825.1:n.1191G>T | ||
| XR_931826.1:n.1191G>T | ||
| XR_931827.1:n.1191G>T | ||
| XR_931827.2:n.1181G>T | ||
| NM_005585.5:c.32G>T MANE Select | NP_005576.3:p.Arg11Leu | |
| NR_027654.2:n.1055G>T |