Linked Data
ClinVar Variation Id:
2294004
ClinVar RCV Id:
RCV004146599
dbSNP Id:
rs1563380447
gnomAD v4:
8-28503150-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.28503150T>C , CM000670.2:g.28503150T>C | GRCh38 |
| NC_000008.10:g.28360667T>C , CM000670.1:g.28360667T>C | GRCh37 |
| NC_000008.9:g.28416586T>C | NCBI36 |
| NG_029723.1:g.13946T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240093.8:c.137T>C MANE Select | ENSP00000240093.3:p.Met46Thr | |
| ENST00000240093.7:c.137T>C | ENSP00000240093.3:p.Met46Thr | |
| ENST00000537916.2:c.137T>C | ENSP00000437489.1:p.Met46Thr | |
| NM_017412.3:c.137T>C | NP_059108.1:p.Met46Thr | |
| NM_145866.1:c.137T>C | NP_665873.1:p.Met46Thr | |
| XM_011544648.1:c.137T>C | XP_011542950.1:p.Met46Thr | |
| XR_949476.1:n.656T>C | ||
| XR_949477.1:n.656T>C | ||
| XR_949478.1:n.656T>C | ||
| XM_017013842.1:c.137T>C | XP_016869331.1:p.Met46Thr | |
| XM_017013843.1:c.137T>C | XP_016869332.1:p.Met46Thr | |
| XM_017013844.1:c.137T>C | XP_016869333.1:p.Met46Thr | |
| XR_001745597.2:n.613T>C | ||
| XR_949476.2:n.656T>C | ||
| NM_017412.4:c.137T>C MANE Select | NP_059108.1:p.Met46Thr | |
| NM_145866.2:c.137T>C | NP_665873.1:p.Met46Thr |