Linked Data
ClinVar Variation Id:
468871
dbSNP Id:
rs187905134
ExAC:
16:69370468 C / T
gnomAD v2:
16-69370468-C-T
gnomAD v3:
16-69336565-C-T
gnomAD v4:
16-69336565-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.69336565C>T , CM000678.2:g.69336565C>T | GRCh38 |
| NC_000016.9:g.69370468C>T , CM000678.1:g.69370468C>T | GRCh37 |
| NC_000016.8:g.67927969C>T | NCBI36 |
| NG_009013.1:g.8059G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306875.10:c.525G>A MANE Select | ENSP00000305459.6:p.Leu175= | |
| ENST00000306875.8:c.525G>A | ENSP00000305459.4:p.Leu175= | |
| ENST00000562081.2:c.525G>A | ENSP00000455954.1:p.Leu175= | |
| ENST00000562595.5:c.466G>A | ||
| ENST00000563634.1:c.150G>A | ENSP00000454500.1:p.Leu50= | |
| ENST00000564737.1:c.614G>A | ||
| ENST00000567493.1:c.105G>A | ENSP00000464395.1:p.Leu35= | |
| ENST00000570293.5:c.464G>A | ENSP00000464417.1:n.464G>A | |
| NM_032382.4:c.525G>A | NP_115758.3:p.Leu175= | |
| NM_001374871.1:c.525G>A | NP_001361800.1:p.Leu175= | |
| NM_032382.5:c.525G>A MANE Select | NP_115758.3:p.Leu175= | |
| NM_001379261.1:c.525G>A | NP_001366190.1:p.Leu175= | |
| NM_001379262.1:c.525G>A | NP_001366191.1:p.Leu175= | |
| NM_001379263.1:c.525G>A | NP_001366192.1:p.Leu175= | |
| NM_001379264.1:c.525G>A | NP_001366193.1:p.Leu175= | |
| NM_001379265.1:c.525G>A | NP_001366194.1:p.Leu175= | |
| NM_001379266.1:c.525G>A | NP_001366195.1:p.Leu175= |