Linked Data
ClinVar Variation Id:
11185
ClinVar RCV Id:
RCV000011935
dbSNP Id:
rs132630261
PubMed:
PMID:8871668
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47626062A>C , CM000685.2:g.47626062A>C | GRCh38 |
| NC_000023.10:g.47485461A>C , CM000685.1:g.47485461A>C | GRCh37 |
| NC_000023.9:g.47370405A>C | NCBI36 |
| NG_009893.1:g.9244T>G , LRG_129:g.9244T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.1240T>G MANE Select | ENSP00000380189.3:p.Tyr414Asp | |
| ENST00000640573.1:n.1478T>G | ||
| ENST00000247153.7:c.1240T>G | ENSP00000247153.3:p.Tyr414Asp | |
| ENST00000377005.6:c.1240T>G | ENSP00000366204.2:p.Tyr414Asp | |
| ENST00000396992.7:c.1240T>G | ENSP00000380189.3:p.Tyr414Asp | |
| ENST00000478222.1:n.361T>G | ||
| ENST00000485991.5:n.2537T>G | ||
| NM_001145252.1:c.1240T>G | NP_001138724.1:p.Tyr414Asp | |
| NM_002621.2:c.1240T>G , LRG_129t1:c.1240T>G | NP_002612.1:p.Tyr414Asp | |
| XM_017029575.1:c.835T>G | XP_016885064.1:p.Tyr279Asp | |
| NM_001145252.3:c.1240T>G MANE Select | NP_001138724.1:p.Tyr414Asp |