Linked Data
ClinVar Variation Id:
2769026
ClinVar RCV Id:
RCV003576652
MyVariant Identifiers:
chr4:g.47408928G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406911G>A , CM000666.2:g.47406911G>A | GRCh38 |
| NC_000004.11:g.47408928G>A , CM000666.1:g.47408928G>A | GRCh37 |
| NC_000004.10:g.47103685G>A | NCBI36 |
| NG_051831.1:g.380634G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.1065G>A MANE Select | ENSP00000295454.3:p.Glu355= | |
| ENST00000295454.7:c.1065G>A | ENSP00000295454.3:p.Glu355= | |
| NM_000812.3:c.1065G>A | NP_000803.2:p.Glu355= | |
| XM_011513678.1:c.1044G>A | XP_011511980.1:p.Glu348= | |
| XM_017007985.1:c.414G>A | XP_016863474.1:p.Glu138= | |
| XM_024453976.1:c.966G>A | XP_024309744.1:p.Glu322= | |
| XM_024453977.1:c.966G>A | XP_024309745.1:p.Glu322= | |
| XM_024453978.1:c.966G>A | XP_024309746.1:p.Glu322= | |
| NM_000812.4:c.1065G>A MANE Select | NP_000803.2:p.Glu355= |