Linked Data
ClinVar Variation Id:
225684
ClinVar RCV Id:
RCV000210956
dbSNP Id:
rs747171013
PubMed:
PMID:23918704
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008094G>A , CM000672.2:g.72008094G>A | GRCh38 |
| NC_000010.10:g.73767852G>A , CM000672.1:g.73767852G>A | GRCh37 |
| NC_000010.9:g.73437858G>A | NCBI36 |
| NG_012635.1:g.48733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1063G>A MANE Select | ENSP00000362207.4:p.Gly355Arg | |
| ENST00000373115.4:c.1063G>A | ENSP00000362207.4:p.Gly355Arg | |
| NM_004273.4:c.1063G>A | NP_004264.2:p.Gly355Arg | |
| XM_006718075.2:c.1063G>A | XP_006718138.1:p.Gly355Arg | |
| XM_011540369.1:c.1063G>A | XP_011538671.1:p.Gly355Arg | |
| XM_006718075.4:c.1063G>A | XP_006718138.1:p.Gly355Arg | |
| XM_011540369.2:c.1063G>A | XP_011538671.1:p.Gly355Arg | |
| NM_004273.5:c.1063G>A MANE Select | NP_004264.2:p.Gly355Arg |