Linked Data
ClinVar Variation Id:
696251
dbSNP Id:
rs151121691
ExAC:
17:45360839 C / T
gnomAD v2:
17-45360839-C-T
gnomAD v3:
17-47283473-C-T
gnomAD v4:
17-47283473-C-T
ERepo:
CA8622908/MONDO:0010119/011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47283473C>T , CM000679.2:g.47283473C>T | GRCh38 |
| NC_000017.10:g.45360839C>T , CM000679.1:g.45360839C>T | GRCh37 |
| NC_000017.9:g.42715838C>T | NCBI36 |
| NG_008332.2:g.34632C>T , LRG_481:g.34632C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696963.1:c.285C>T | ENSP00000513002.1:p.Leu95= | |
| ENST00000559488.7:c.285C>T MANE Select | ENSP00000452786.2:p.Leu95= | |
| ENST00000559488.5:c.285C>T | ENSP00000452786.1:p.Leu95= | |
| ENST00000560629.1:c.250C>T | ||
| ENST00000571680.1:c.285C>T | ENSP00000461626.1:p.Leu95= | |
| NM_000212.2:c.285C>T , LRG_481t1:c.285C>T | NP_000203.2:p.Leu95= | |
| NM_000212.3:c.285C>T MANE Select | NP_000203.2:p.Leu95= |