This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
MyVariant.info:
GRCh37
chr8:g.37823199C>A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965681C>A , CM000670.2:g.37965681C>A | GRCh38 |
| NC_000008.10:g.37823199C>A , CM000670.1:g.37823199C>A | GRCh37 |
| NC_000008.9:g.37942356C>A | NCBI36 |
| NG_011936.1:g.5986G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.789G>T MANE Select | ENSP00000343782.3:p.Val263= | |
| ENST00000520341.2:n.917G>T | ||
| ENST00000647937.1:c.273G>T | ENSP00000497740.1:p.Val91= | |
| ENST00000345060.4:c.789G>T | ENSP00000343782.3:p.Val263= | |
| ENST00000520341.1:n.64G>T | ||
| ENST00000614635.1:c.789G>T | ENSP00000480325.1:p.Val263= | |
| NM_000025.2:c.789G>T | NP_000016.1:p.Val263= | |
| NM_000025.3:c.789G>T MANE Select | NP_000016.1:p.Val263= |