Linked Data
MyVariant Identifiers:
chr12:g.58158307C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764524C>A , CM000674.2:g.57764524C>A | GRCh38 |
| NC_000012.11:g.58158307C>A , CM000674.1:g.58158307C>A | GRCh37 |
| NC_000012.10:g.56444574C>A | NCBI36 |
| NG_007076.1:g.7670G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1071G>T | ENSP00000518840.1:p.Leu357= | |
| ENST00000713545.1:c.1048G>T | ENSP00000518841.1:p.Val350Leu | |
| ENST00000228606.9:c.990G>T MANE Select | ENSP00000228606.4:p.Leu330= | |
| ENST00000228606.8:c.990G>T | ENSP00000228606.4:p.Leu330= | |
| ENST00000546567.5:c.285G>T | ENSP00000449472.1:p.Leu95= | |
| ENST00000547344.5:n.1129G>T | ||
| NM_000785.3:c.990G>T | NP_000776.1:p.Leu330= | |
| NM_000785.4:c.990G>T MANE Select | NP_000776.1:p.Leu330= |