Linked Data
ClinVar Variation Id:
2054975
ClinVar RCV Id:
RCV002909923
MyVariant Identifiers:
chr8:g.38001860G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144342G>T , CM000670.2:g.38144342G>T | GRCh38 |
| NC_000008.10:g.38001860G>T , CM000670.1:g.38001860G>T | GRCh37 |
| NC_000008.9:g.38121017G>T | NCBI36 |
| NG_011827.1:g.11741C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.789C>A MANE Select | ENSP00000276449.3:p.Thr263= | |
| ENST00000276449.8:c.789C>A | ENSP00000276449.3:p.Thr263= | |
| ENST00000520114.1:n.2758C>A | ||
| ENST00000522050.1:c.631C>A | ||
| NM_000349.2:c.789C>A | NP_000340.2:p.Thr263= | |
| XM_006716392.1:c.695C>A | XP_006716455.1:p.Pro232His | |
| NM_000349.3:c.789C>A MANE Select | NP_000340.2:p.Thr263= |