Linked Data
ClinVar Variation Id:
11184
ClinVar RCV Id:
RCV000011934
dbSNP Id:
rs132630260
gnomAD v4:
X-47627290-G-C
PubMed:
PMID:10909851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47627290G>C , CM000685.2:g.47627290G>C | GRCh38 |
| NC_000023.10:g.47486689G>C , CM000685.1:g.47486689G>C | GRCh37 |
| NC_000023.9:g.47371633G>C | NCBI36 |
| NG_009893.1:g.8016C>G , LRG_129:g.8016C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.617C>G MANE Select | ENSP00000380189.3:p.Ser206Ter | |
| ENST00000640573.1:n.855C>G | ||
| ENST00000247153.7:c.617C>G | ENSP00000247153.3:p.Ser206Ter | |
| ENST00000377005.6:c.617C>G | ENSP00000366204.2:p.Ser206Ter | |
| ENST00000396992.7:c.617C>G | ENSP00000380189.3:p.Ser206Ter | |
| ENST00000469388.1:c.212C>G | ENSP00000418258.1:p.Ser71Ter | |
| ENST00000485991.5:n.1914C>G | ||
| NM_001145252.1:c.617C>G | NP_001138724.1:p.Ser206Ter | |
| NM_002621.2:c.617C>G , LRG_129t1:c.617C>G | NP_002612.1:p.Ser206Ter | |
| XM_017029575.1:c.212C>G | XP_016885064.1:p.Ser71Ter | |
| NM_001145252.3:c.617C>G MANE Select | NP_001138724.1:p.Ser206Ter |