Linked Data
ClinVar Variation Id:
224327
ClinVar RCV Id:
RCV000209996
dbSNP Id:
rs869312732
PubMed:
PMID:18596884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.51380262C>T , CM000681.2:g.51380262C>T | GRCh38 |
| NC_000019.9:g.51883516C>T , CM000681.1:g.51883516C>T | GRCh37 |
| NC_000019.8:g.56575328C>T | NCBI36 |
| NG_012924.1:g.12695G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596399.2:c.461G>A MANE Select | ENSP00000472090.2:p.Gly154Glu | |
| ENST00000221973.7:c.587G>A | ENSP00000221973.2:p.Gly196Glu | |
| ENST00000596399.1:c.461G>A | ENSP00000472090.1:p.Gly154Glu | |
| NM_001161748.1:c.461G>A | NP_001155220.1:p.Gly154Glu | |
| NM_030657.3:c.587G>A | NP_085915.2:p.Gly196Glu | |
| NM_001161748.2:c.461G>A MANE Select | NP_001155220.1:p.Gly154Glu | |
| NM_030657.4:c.587G>A | NP_085915.2:p.Gly196Glu |