Linked Data
ClinVar Variation Id:
15382
ClinVar RCV Id:
RCV000016634
dbSNP Id:
rs33945705
PubMed:
PMID:1018330
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226672C>A , CM000673.2:g.5226672C>A | GRCh38 |
| NC_000011.9:g.5247902C>A , CM000673.1:g.5247902C>A | GRCh37 |
| NC_000011.8:g.5204478C>A | NCBI36 |
| NG_000007.3:g.70944G>T | |
| NG_059281.1:g.5400G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.220G>T | ENSP00000494175.1:p.Asp74Tyr | |
| ENST00000335295.4:c.220G>T MANE Select | ENSP00000333994.3:p.Asp74Tyr | |
| ENST00000380315.2:c.220G>T | ENSP00000369671.2:p.Asp74Tyr | |
| ENST00000475226.1:n.152G>T | ||
| ENST00000485743.1:n.271G>T | ||
| ENST00000633227.1:c.*36G>T | ENSP00000488004.1:n.*36G>T | |
| NM_000518.4:c.220G>T | NP_000509.1:p.Asp74Tyr | |
| NM_000518.5:c.220G>T MANE Select | NP_000509.1:p.Asp74Tyr |