Linked Data
ClinVar Variation Id:
2381
ClinVar RCV Id:
RCV000179776
dbSNP Id:
rs137852875
gnomAD v2:
19-41928609-C-G
gnomAD v3:
19-41422704-C-G
gnomAD v4:
19-41422704-C-G
PubMed:
PMID:9582350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422704C>G , CM000681.2:g.41422704C>G | GRCh38 |
| NC_000019.9:g.41928609C>G , CM000681.1:g.41928609C>G | GRCh37 |
| NC_000019.8:g.46620449C>G | NCBI36 |
| NG_013004.1:g.29916C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.929C>G MANE Select | ENSP00000269980.2:p.Thr310Arg | |
| ENST00000269980.6:c.929C>G | ENSP00000269980.2:p.Thr310Arg | |
| ENST00000457836.6:c.863C>G | ENSP00000416000.2:p.Thr288Arg | |
| ENST00000535632.5:n.558C>G | ||
| ENST00000540732.3:c.1031C>G | ENSP00000443246.1:p.Thr344Arg | |
| ENST00000542943.5:c.842C>G | ENSP00000440345.1:p.Thr281Arg | |
| ENST00000545787.1:n.557C>G | ||
| ENST00000595085.5:c.922+7C>G | ENSP00000471150.2:n.922+7C>G | |
| NM_000709.3:c.929C>G | NP_000700.1:p.Thr310Arg | |
| NM_001164783.1:c.926C>G | NP_001158255.1:p.Thr309Arg | |
| NM_000709.4:c.929C>G MANE Select | NP_000700.1:p.Thr310Arg | |
| NM_001164783.2:c.926C>G | NP_001158255.1:p.Thr309Arg |