Linked Data
dbSNP Id:
rs770954803
ExAC:
16:1412313 C / T
gnomAD v2:
16-1412313-C-T
gnomAD v3:
16-1362312-C-T
gnomAD v4:
16-1362312-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362312C>T , CM000678.2:g.1362312C>T | GRCh38 |
| NC_000016.9:g.1412313C>T , CM000678.1:g.1412313C>T | GRCh37 |
| NC_000016.8:g.1352314C>T | NCBI36 |
| NG_016985.1:g.15414C>T | |
| NG_033129.1:g.57393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.617C>T | ||
| ENST00000529110.2:c.602C>T | ENSP00000435349.2:p.Ala201Val | |
| ENST00000529957.6:n.576C>T | ||
| ENST00000683366.1:c.*250C>T | ENSP00000507283.1:n.*250C>T | |
| ENST00000683887.1:c.566C>T | ENSP00000506886.1:p.Ala189Val | |
| ENST00000684100.1:n.512C>T | ||
| ENST00000684126.1:n.576C>T | ||
| ENST00000684688.1:n.1143C>T | ||
| ENST00000204679.9:c.518C>T MANE Select | ENSP00000204679.4:p.Ala173Val | |
| ENST00000204679.8:c.518C>T | ENSP00000204679.4:p.Ala173Val | |
| ENST00000527076.1:n.1534C>T | ||
| ENST00000527168.5:n.554C>T | ||
| ENST00000529957.5:n.617C>T | ||
| NM_032520.4:c.518C>T | NP_115909.1:p.Ala173Val | |
| XM_017023782.1:c.566C>T | XP_016879271.1:p.Ala189Val | |
| XM_017023783.1:c.158C>T | XP_016879272.1:p.Ala53Val | |
| NM_032520.5:c.518C>T MANE Select | NP_115909.1:p.Ala173Val |