Linked Data
ClinVar Variation Id:
11183
ClinVar RCV Id:
RCV000011933
dbSNP Id:
rs28935480
PubMed:
PMID:10909851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47626820C>A , CM000685.2:g.47626820C>A | GRCh38 |
| NC_000023.10:g.47486219C>A , CM000685.1:g.47486219C>A | GRCh37 |
| NC_000023.9:g.47371163C>A | NCBI36 |
| NG_009893.1:g.8486G>T , LRG_129:g.8486G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.893G>T MANE Select | ENSP00000380189.3:p.Gly298Val | |
| ENST00000640573.1:n.1131G>T | ||
| ENST00000247153.7:c.893G>T | ENSP00000247153.3:p.Gly298Val | |
| ENST00000377005.6:c.893G>T | ENSP00000366204.2:p.Gly298Val | |
| ENST00000396992.7:c.893G>T | ENSP00000380189.3:p.Gly298Val | |
| ENST00000469388.1:c.488G>T | ENSP00000418258.1:p.Gly163Val | |
| ENST00000485991.5:n.2190G>T | ||
| NM_001145252.1:c.893G>T | NP_001138724.1:p.Gly298Val | |
| NM_002621.2:c.893G>T , LRG_129t1:c.893G>T | NP_002612.1:p.Gly298Val | |
| XM_017029575.1:c.488G>T | XP_016885064.1:p.Gly163Val | |
| NM_001145252.3:c.893G>T MANE Select | NP_001138724.1:p.Gly298Val |