Linked Data
MyVariant Identifiers:
chr22:g.50659008A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50220579A>G , CM000684.2:g.50220579A>G | GRCh38 |
| NC_000022.10:g.50659008A>G , CM000684.1:g.50659008A>G | GRCh37 |
| NC_000022.9:g.49001135A>G | NCBI36 |
| NG_032160.1:g.29393T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248846.10:c.3780T>C MANE Select | ENSP00000248846.5:p.Val1260= | |
| ENST00000248846.9:c.3780T>C | ENSP00000248846.5:p.Val1260= | |
| ENST00000439308.6:c.3780T>C | ENSP00000397387.2:p.Val1260= | |
| ENST00000491449.5:n.2087T>C | ||
| ENST00000498611.5:n.3618-564T>C | ||
| NM_020461.3:c.3780T>C | NP_065194.2:p.Val1260= | |
| XR_938347.1:n.4345T>C | ||
| XR_938348.1:n.3050-564T>C | ||
| XR_001755343.2:n.4349T>C | ||
| XR_001755344.2:n.4349T>C | ||
| XR_002958720.1:n.3054-564T>C | ||
| XR_938347.2:n.4349T>C | ||
| NM_020461.4:c.3780T>C MANE Select | NP_065194.3:p.Val1260= |