Linked Data
ClinVar Variation Id:
39846
ClinVar RCV Id:
RCV000033073
dbSNP Id:
rs397515428
PubMed:
PMID:23063620
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.42375537A>G , CM000681.2:g.42375537A>G | GRCh38 |
| NC_000019.9:g.42879689A>G , CM000681.1:g.42879689A>G | GRCh37 |
| NC_000019.8:g.47571529A>G | NCBI36 |
| NG_033030.1:g.54929A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251268.11:c.7300A>G MANE Select | ENSP00000251268.5:p.Ser2434Gly | |
| ENST00000251268.10:c.7300A>G | ENSP00000251268.5:p.Ser2434Gly | |
| ENST00000334370.8:c.7099A>G | ENSP00000334219.4:p.Ser2367Gly | |
| ENST00000378073.5:c.82A>G | ENSP00000367313.4:p.Ser28Gly | |
| ENST00000593647.1:c.426A>G | ENSP00000470620.1:p.Gly142= | |
| ENST00000598762.1:c.162-3163A>G | ||
| ENST00000599787.1:n.235A>G | ||
| NM_001271938.1:c.7300A>G | NP_001258867.1:p.Ser2434Gly | |
| NM_001410.2:c.7099A>G | NP_001401.2:p.Ser2367Gly | |
| NM_001271938.2:c.7300A>G MANE Select | NP_001258867.1:p.Ser2434Gly | |
| NM_001410.3:c.7099A>G | NP_001401.2:p.Ser2367Gly |