Linked Data
dbSNP Id:
rs1267208378
gnomAD v2:
12-58158302-T-A
gnomAD v3:
12-57764519-T-A
gnomAD v4:
12-57764519-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764519T>A , CM000674.2:g.57764519T>A | GRCh38 |
| NC_000012.11:g.58158302T>A , CM000674.1:g.58158302T>A | GRCh37 |
| NC_000012.10:g.56444569T>A | NCBI36 |
| NG_007076.1:g.7675A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1076A>T | ENSP00000518840.1:p.Glu359Val | |
| ENST00000713545.1:c.1053A>T | ENSP00000518841.1:p.Ter351Cys | |
| ENST00000228606.9:c.995A>T MANE Select | ENSP00000228606.4:p.Glu332Val | |
| ENST00000228606.8:c.995A>T | ENSP00000228606.4:p.Glu332Val | |
| ENST00000546567.5:c.290A>T | ENSP00000449472.1:p.Glu97Val | |
| ENST00000547344.5:n.1134A>T | ||
| NM_000785.3:c.995A>T | NP_000776.1:p.Glu332Val | |
| NM_000785.4:c.995A>T MANE Select | NP_000776.1:p.Glu332Val |