Linked Data
ClinVar Variation Id:
2750352
ClinVar RCV Id:
RCV003563425
MyVariant Identifiers:
chr16:g.1412063C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362062C>T , CM000678.2:g.1362062C>T | GRCh38 |
| NC_000016.9:g.1412063C>T , CM000678.1:g.1412063C>T | GRCh37 |
| NC_000016.8:g.1352064C>T | NCBI36 |
| NG_016985.1:g.15164C>T | |
| NG_033129.1:g.57643G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.441C>T | ||
| ENST00000529110.2:c.426C>T | ENSP00000435349.2:p.Ala142= | |
| ENST00000529957.6:n.400C>T | ||
| ENST00000683366.1:c.*74C>T | ENSP00000507283.1:n.*74C>T | |
| ENST00000683887.1:c.390C>T | ENSP00000506886.1:p.Ala130= | |
| ENST00000684100.1:n.336C>T | ||
| ENST00000684126.1:n.400C>T | ||
| ENST00000684688.1:n.967C>T | ||
| ENST00000204679.9:c.342C>T MANE Select | ENSP00000204679.4:p.Ala114= | |
| ENST00000204679.8:c.342C>T | ENSP00000204679.4:p.Ala114= | |
| ENST00000526820.5:c.*244C>T | ENSP00000434413.1:n.*244C>T | |
| ENST00000527076.1:n.1358C>T | ||
| ENST00000527168.5:n.378C>T | ||
| ENST00000529110.1:c.409C>T | ||
| ENST00000529957.5:n.441C>T | ||
| NM_032520.4:c.342C>T | NP_115909.1:p.Ala114= | |
| XM_017023782.1:c.390C>T | XP_016879271.1:p.Ala130= | |
| XM_017023783.1:c.-19C>T | XP_016879272.1:n.-19C>T | |
| NM_032520.5:c.342C>T MANE Select | NP_115909.1:p.Ala114= |