Linked Data
MyVariant Identifiers:
chr12:g.58158207G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764424G>A , CM000674.2:g.57764424G>A | GRCh38 |
| NC_000012.11:g.58158207G>A , CM000674.1:g.58158207G>A | GRCh37 |
| NC_000012.10:g.56444474G>A | NCBI36 |
| NG_007076.1:g.7770C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1171C>T | ENSP00000518840.1:p.Leu391= | |
| ENST00000713545.1:c.*95C>T | ENSP00000518841.1:n.*95C>T | |
| ENST00000228606.9:c.1090C>T MANE Select | ENSP00000228606.4:p.Leu364= | |
| ENST00000228606.8:c.1090C>T | ENSP00000228606.4:p.Leu364= | |
| ENST00000546567.5:c.385C>T | ENSP00000449472.1:p.Leu129= | |
| ENST00000547344.5:n.1229C>T | ||
| NM_000785.3:c.1090C>T | NP_000776.1:p.Leu364= | |
| NM_000785.4:c.1090C>T MANE Select | NP_000776.1:p.Leu364= |