Linked Data
ClinVar Variation Id:
496598
ClinVar RCV Id:
RCV000590851
dbSNP Id:
rs1554076309
PubMed:
PMID:20571988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.60945264G>A , CM000667.2:g.60945264G>A | GRCh38 |
| NC_000005.9:g.60241091G>A , CM000667.1:g.60241091G>A | GRCh37 |
| NC_000005.8:g.60276848G>A | NCBI36 |
| NG_008978.1:g.5136G>A | |
| NG_009289.1:g.4815C>T , LRG_466:g.4815C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296597.10:c.9G>A MANE Select | ENSP00000296597.5:p.Trp3Ter | |
| ENST00000677756.1:c.9G>A | ENSP00000503642.1:p.Trp3Ter | |
| ENST00000677932.1:c.9G>A | ENSP00000504750.1:p.Trp3Ter | |
| ENST00000678452.1:c.9G>A | ENSP00000504248.1:p.Trp3Ter | |
| ENST00000296597.9:c.9G>A | ENSP00000296597.5:p.Trp3Ter | |
| ENST00000511107.1:c.9G>A | ENSP00000423377.1:p.Trp3Ter | |
| NM_174889.4:c.9G>A | NP_777549.1:p.Trp3Ter | |
| NM_174889.5:c.9G>A MANE Select | NP_777549.1:p.Trp3Ter |