Linked Data
ClinVar Variation Id:
1124959
ClinVar RCV Id:
RCV001456551
dbSNP Id:
rs2130613595
MyVariant Identifiers:
chr8:g.38003510C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38145992C>T , CM000670.2:g.38145992C>T | GRCh38 |
| NC_000008.10:g.38003510C>T , CM000670.1:g.38003510C>T | GRCh37 |
| NC_000008.9:g.38122667C>T | NCBI36 |
| NG_011827.1:g.10091G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276449.9:c.621G>A MANE Select | ENSP00000276449.3:p.Gly207= | |
| ENST00000276449.8:c.621G>A | ENSP00000276449.3:p.Gly207= | |
| ENST00000520114.1:n.1108G>A | ||
| ENST00000522050.1:c.557G>A | ||
| NM_000349.2:c.621G>A | NP_000340.2:p.Gly207= | |
| XM_006716392.1:c.621G>A | XP_006716455.1:p.Gly207= | |
| NM_000349.3:c.621G>A MANE Select | NP_000340.2:p.Gly207= |