Linked Data
ClinVar Variation Id:
13567
dbSNP Id:
rs121918452
ExAC:
17:45361875 T / G
gnomAD v2:
17-45361875-T-G
gnomAD v4:
17-47284509-T-G
ERepo:
CA123252/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47284509T>G , CM000679.2:g.47284509T>G | GRCh38 |
| NC_000017.10:g.45361875T>G , CM000679.1:g.45361875T>G | GRCh37 |
| NC_000017.9:g.42716874T>G | NCBI36 |
| NG_008332.2:g.35668T>G , LRG_481:g.35668T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696963.1:c.428T>G | ENSP00000513002.1:p.Leu143Trp | |
| ENST00000559488.7:c.428T>G MANE Select | ENSP00000452786.2:p.Leu143Trp | |
| ENST00000559488.5:c.428T>G | ENSP00000452786.1:p.Leu143Trp | |
| ENST00000560629.1:c.393T>G | ||
| ENST00000571680.1:c.428T>G | ENSP00000461626.1:p.Leu143Trp | |
| NM_000212.2:c.428T>G , LRG_481t1:c.428T>G | NP_000203.2:p.Leu143Trp | |
| NM_000212.3:c.428T>G MANE Select | NP_000203.2:p.Leu143Trp |