Linked Data
MyVariant Identifiers:
chr12:g.58158205C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764422C>T , CM000674.2:g.57764422C>T | GRCh38 |
| NC_000012.11:g.58158205C>T , CM000674.1:g.58158205C>T | GRCh37 |
| NC_000012.10:g.56444472C>T | NCBI36 |
| NG_007076.1:g.7772G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1173G>A | ENSP00000518840.1:p.Leu391= | |
| ENST00000713545.1:c.*97G>A | ENSP00000518841.1:n.*97G>A | |
| ENST00000228606.9:c.1092G>A MANE Select | ENSP00000228606.4:p.Leu364= | |
| ENST00000228606.8:c.1092G>A | ENSP00000228606.4:p.Leu364= | |
| ENST00000546567.5:c.387G>A | ENSP00000449472.1:p.Leu129= | |
| ENST00000547344.5:n.1231G>A | ||
| NM_000785.3:c.1092G>A | NP_000776.1:p.Leu364= | |
| NM_000785.4:c.1092G>A MANE Select | NP_000776.1:p.Leu364= |