Linked Data
ClinVar Variation Id:
224182
ClinVar RCV Id:
RCV000209891
dbSNP Id:
rs869312731
PubMed:
PMID:26937547
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.6079448C>T , CM000682.2:g.6079448C>T | GRCh38 |
| NC_000020.10:g.6060095C>T , CM000682.1:g.6060095C>T | GRCh37 |
| NC_000020.9:g.6008095C>T | NCBI36 |
| NG_016213.1:g.49097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000699095.1:c.1848G>A | ENSP00000514127.1:p.Trp616Ter | |
| ENST00000217289.9:c.1848G>A MANE Select | ENSP00000217289.4:p.Trp616Ter | |
| ENST00000217289.8:c.1848G>A | ENSP00000217289.4:p.Trp616Ter | |
| ENST00000478194.1:n.808G>A | ||
| ENST00000536936.1:c.1077G>A | ENSP00000441063.1:p.Trp359Ter | |
| NM_017671.4:c.1848G>A | NP_060141.3:p.Trp616Ter | |
| XM_024451935.1:c.1848G>A | XP_024307703.1:p.Trp616Ter | |
| NM_017671.5:c.1848G>A MANE Select | NP_060141.3:p.Trp616Ter |