Linked Data
ClinVar Variation Id:
192382
ClinVar RCV Id:
RCV000173011
dbSNP Id:
rs794726863
PubMed:
PMID:25612912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.119870713G>A , CM000685.2:g.119870713G>A | GRCh38 |
| NC_000023.10:g.119004676G>A , CM000685.1:g.119004676G>A | GRCh37 |
| NC_000023.9:g.118888704G>A | NCBI36 |
| NG_009381.1:g.3943G>A | |
| NG_021227.1:g.6116C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371442.4:c.901C>T MANE Select | ENSP00000360497.2:p.Gln301Ter | |
| ENST00000371442.3:c.901C>T | ENSP00000360497.2:p.Gln301Ter | |
| NM_006978.2:c.901C>T | NP_008909.1:p.Gln301Ter | |
| NM_006978.3:c.901C>T MANE Select | NP_008909.1:p.Gln301Ter |