Linked Data
ClinVar Variation Id:
2108154
ClinVar RCV Id:
RCV003034023
dbSNP Id:
rs1802568036
gnomAD v4:
8-38146118-G-A
MyVariant Identifiers:
chr8:g.38003636G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38146118G>A , CM000670.2:g.38146118G>A | GRCh38 |
| NC_000008.10:g.38003636G>A , CM000670.1:g.38003636G>A | GRCh37 |
| NC_000008.9:g.38122793G>A | NCBI36 |
| NG_011827.1:g.9965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.495C>T MANE Select | ENSP00000276449.3:p.Phe165= | |
| ENST00000276449.8:c.495C>T | ENSP00000276449.3:p.Phe165= | |
| ENST00000520114.1:n.982C>T | ||
| ENST00000522050.1:c.431C>T | ||
| NM_000349.2:c.495C>T | NP_000340.2:p.Phe165= | |
| XM_006716392.1:c.495C>T | XP_006716455.1:p.Phe165= | |
| NM_000349.3:c.495C>T MANE Select | NP_000340.2:p.Phe165= |