Linked Data
ClinVar Variation Id:
1016645
ClinVar RCV Id:
RCV001315680
dbSNP Id:
rs897314122
gnomAD v2:
6-100057139-G-T
gnomAD v3:
6-99609263-G-T
gnomAD v4:
6-99609263-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.99609263G>T , CM000668.2:g.99609263G>T | GRCh38 |
| NC_000006.11:g.100057139G>T , CM000668.1:g.100057139G>T | GRCh37 |
| NC_000006.10:g.100163860G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369215.5:c.353G>T MANE Select | ENSP00000358217.5:p.Trp118Leu | |
| ENST00000369214.2:c.*15G>T | ENSP00000358216.2:n.*15G>T | |
| ENST00000369215.4:c.353G>T | ENSP00000358217.4:p.Trp118Leu | |
| NM_021620.3:c.353G>T | NP_067633.2:p.Trp118Leu | |
| NM_021620.4:c.353G>T MANE Select | NP_067633.2:p.Trp118Leu |