Linked Data
gnomAD v4:
1-67009109-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67009109G>A , CM000663.2:g.67009109G>A | GRCh38 |
| NC_000001.10:g.67474792G>A , CM000663.1:g.67474792G>A | GRCh37 |
| NC_000001.9:g.67247380G>A | NCBI36 |
| NG_012933.1:g.50289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000235345.6:c.935C>T MANE Select | ENSP00000235345.5:p.Thr312Ile | |
| ENST00000235345.5:c.935C>T | ENSP00000235345.5:p.Thr312Ile | |
| NM_015139.2:c.935C>T | NP_055954.1:p.Thr312Ile | |
| XM_006710478.1:c.1016C>T | XP_006710541.1:p.Thr339Ile | |
| XM_011541070.1:c.1016C>T | XP_011539372.1:p.Thr339Ile | |
| XM_006710478.2:c.1016C>T | XP_006710541.1:p.Thr339Ile | |
| XM_011541070.2:c.1016C>T | XP_011539372.1:p.Thr339Ile | |
| XR_001737057.2:n.1519C>T | ||
| XR_001737058.2:n.2304C>T | ||
| NM_015139.3:c.935C>T MANE Select | NP_055954.1:p.Thr312Ile |