Linked Data
MyVariant Identifiers:
chr12:g.58158831G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57765048G>T , CM000674.2:g.57765048G>T | GRCh38 |
| NC_000012.11:g.58158831G>T , CM000674.1:g.58158831G>T | GRCh37 |
| NC_000012.10:g.56445098G>T | NCBI36 |
| NG_007076.1:g.7146C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546609.2:n.665C>A | ||
| ENST00000713544.1:c.834C>A | ENSP00000518840.1:p.Gly278= | |
| ENST00000713545.1:c.811C>A | ENSP00000518841.1:p.Pro271Thr | |
| ENST00000228606.9:c.753C>A MANE Select | ENSP00000228606.4:p.Gly251= | |
| ENST00000228606.8:c.753C>A | ENSP00000228606.4:p.Gly251= | |
| ENST00000546567.5:c.48C>A | ENSP00000449472.1:p.Gly16= | |
| ENST00000546609.1:c.665C>A | ||
| ENST00000547344.5:n.892C>A | ||
| ENST00000547451.1:n.553C>A | ||
| NM_000785.3:c.753C>A | NP_000776.1:p.Gly251= | |
| NM_000785.4:c.753C>A MANE Select | NP_000776.1:p.Gly251= |