Linked Data
MyVariant Identifiers:
chr8:g.38001872G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.38144354G>A , CM000670.2:g.38144354G>A | GRCh38 |
| NC_000008.10:g.38001872G>A , CM000670.1:g.38001872G>A | GRCh37 |
| NC_000008.9:g.38121029G>A | NCBI36 |
| NG_011827.1:g.11729C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276449.9:c.777C>T MANE Select | ENSP00000276449.3:p.Val259= | |
| ENST00000276449.8:c.777C>T | ENSP00000276449.3:p.Val259= | |
| ENST00000520114.1:n.2746C>T | ||
| ENST00000522050.1:c.619C>T | ||
| NM_000349.2:c.777C>T | NP_000340.2:p.Val259= | |
| XM_006716392.1:c.683C>T | XP_006716455.1:p.Ser228Phe | |
| NM_000349.3:c.777C>T MANE Select | NP_000340.2:p.Val259= |