Linked Data
ClinVar Variation Id:
95931
ClinVar RCV Id:
RCV001795148
dbSNP Id:
rs398124348
ExAC:
16:5132566 C / T
gnomAD v2:
16-5132566-C-T
gnomAD v3:
16-5082565-C-T
gnomAD v4:
16-5082565-C-T
COSMIC:
COSM6263348
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5082565C>T , CM000678.2:g.5082565C>T | GRCh38 |
| NC_000016.9:g.5132566C>T , CM000678.1:g.5132566C>T | GRCh37 |
| NC_000016.8:g.5072567C>T | NCBI36 |
| NG_009202.1:g.15757C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000592793.6:n.3215C>T | ||
| ENST00000682020.1:c.485C>T | ENSP00000508075.1:p.Ala162Val | |
| ENST00000682206.1:c.*174C>T | ENSP00000508285.1:n.*174C>T | |
| ENST00000682314.1:n.1127C>T | ||
| ENST00000682327.1:c.551C>T | ENSP00000507058.1:p.Ala184Val | |
| ENST00000682349.1:n.3221C>T | ||
| ENST00000682703.1:n.4047C>T | ||
| ENST00000682797.1:c.*171C>T | ENSP00000507582.1:n.*171C>T | |
| ENST00000682985.1:c.590C>T | ENSP00000507598.1:p.Ala197Val | |
| ENST00000683433.1:c.338C>T | ENSP00000507463.1:p.Ala113Val | |
| ENST00000683685.1:n.1953C>T | ||
| ENST00000683710.1:c.*1046C>T | ENSP00000506785.1:n.*1046C>T | |
| ENST00000683739.1:c.746C>T | ENSP00000507002.1:p.Ala249Val | |
| ENST00000683772.1:n.1123C>T | ||
| ENST00000684008.1:c.1017C>T | ENSP00000507962.1:n.1017C>T | |
| ENST00000684190.1:c.1040C>T | ENSP00000507554.1:p.Ala347Val | |
| ENST00000684335.1:c.968C>T | ENSP00000508112.1:p.Ala323Val | |
| ENST00000262374.10:c.1079C>T MANE Select | ENSP00000262374.5:p.Ala360Val | |
| ENST00000650085.1:n.1903C>T | ||
| ENST00000262374.9:c.1079C>T | ENSP00000262374.4:p.Ala360Val | |
| ENST00000544428.1:c.746C>T | ENSP00000440019.1:p.Ala249Val | |
| ENST00000588623.5:c.746C>T | ENSP00000468118.1:p.Ala249Val | |
| ENST00000591822.5:c.*980C>T | ENSP00000467865.1:n.*980C>T | |
| NM_019109.4:c.1079C>T | NP_061982.3:p.Ala360Val | |
| XM_011522565.1:c.746C>T | XP_011520867.1:p.Ala249Val | |
| NM_001330504.1:c.746C>T | NP_001317433.1:p.Ala249Val | |
| XM_017023457.2:c.1040C>T | XP_016878946.1:p.Ala347Val | |
| XM_017023458.1:c.746C>T | XP_016878947.1:p.Ala249Val | |
| XR_932882.3:n.1108C>T | ||
| NM_019109.5:c.1079C>T MANE Select | NP_061982.3:p.Ala360Val | |
| NM_001330504.2:c.746C>T | NP_001317433.1:p.Ala249Val |