Linked Data
ClinVar Variation Id:
409228
ClinVar RCV Id:
RCV000473134
dbSNP Id:
rs371374918
gnomAD v2:
6-116948938-G-A
gnomAD v4:
6-116627775-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116627775G>A , CM000668.2:g.116627775G>A | GRCh38 |
| NC_000006.11:g.116948938G>A , CM000668.1:g.116948938G>A | GRCh37 |
| NC_000006.10:g.117055631G>A | NCBI36 |
| NG_012934.1:g.16297G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229554.10:c.1068G>A MANE Select | ENSP00000229554.5:p.Trp356Ter | |
| ENST00000229554.9:c.1068G>A | ENSP00000229554.5:p.Trp356Ter | |
| ENST00000368580.4:c.922-1792G>A | ENSP00000357569.4:n.922-1792G>A | |
| ENST00000368581.8:c.1068G>A | ENSP00000357570.4:p.Trp356Ter | |
| NM_001010892.2:c.1068G>A | NP_001010892.1:p.Trp356Ter | |
| NM_001161664.1:c.1068G>A | NP_001155136.1:p.Trp356Ter | |
| XM_006715469.2:c.1068G>A | XP_006715532.1:p.Trp356Ter | |
| XM_011535791.1:c.1068G>A | XP_011534093.1:p.Trp356Ter | |
| XM_011535792.1:c.1068G>A | XP_011534094.1:p.Trp356Ter | |
| XR_942416.1:n.3719G>A | ||
| XM_017010826.1:c.1068G>A | XP_016866315.1:p.Trp356Ter | |
| NM_001010892.3:c.1068G>A MANE Select | NP_001010892.1:p.Trp356Ter | |
| NM_001161664.2:c.1068G>A | NP_001155136.1:p.Trp356Ter |