Linked Data
gnomAD v4:
15-66703323-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703323G>T , CM000677.2:g.66703323G>T | GRCh38 |
| NC_000015.9:g.66995661G>T , CM000677.1:g.66995661G>T | GRCh37 |
| NC_000015.8:g.64782715G>T | NCBI36 |
| NG_012244.1:g.5988G>T | |
| NG_012244.2:g.5988G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.65G>T MANE Select | ENSP00000288840.5:p.Arg22Leu | |
| ENST00000288840.9:c.65G>T | ENSP00000288840.5:p.Arg22Leu | |
| ENST00000557916.5:c.65G>T | ENSP00000452955.1:p.Arg22Leu | |
| ENST00000612349.1:n.247G>T | ||
| NM_005585.4:c.65G>T | NP_005576.3:p.Arg22Leu | |
| NR_027654.1:n.988G>T | ||
| XR_931825.1:n.1224G>T | ||
| XR_931826.1:n.1224G>T | ||
| XR_931827.1:n.1224G>T | ||
| XR_931827.2:n.1214G>T | ||
| NM_005585.5:c.65G>T MANE Select | NP_005576.3:p.Arg22Leu | |
| NR_027654.2:n.1088G>T |