Linked Data
dbSNP Id:
rs1955342853
gnomAD v3:
12-57764536-G-A
gnomAD v4:
12-57764536-G-A
MyVariant Identifiers:
chr12:g.58158319G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764536G>A , CM000674.2:g.57764536G>A | GRCh38 |
| NC_000012.11:g.58158319G>A , CM000674.1:g.58158319G>A | GRCh37 |
| NC_000012.10:g.56444586G>A | NCBI36 |
| NG_007076.1:g.7658C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1059C>T | ENSP00000518840.1:p.Leu353= | |
| ENST00000713545.1:c.1036C>T | ENSP00000518841.1:p.Leu346Phe | |
| ENST00000228606.9:c.978C>T MANE Select | ENSP00000228606.4:p.Leu326= | |
| ENST00000228606.8:c.978C>T | ENSP00000228606.4:p.Leu326= | |
| ENST00000546567.5:c.273C>T | ENSP00000449472.1:p.Leu91= | |
| ENST00000547344.5:n.1117C>T | ||
| NM_000785.3:c.978C>T | NP_000776.1:p.Leu326= | |
| NM_000785.4:c.978C>T MANE Select | NP_000776.1:p.Leu326= |