Linked Data
ClinVar Variation Id:
755997
ClinVar RCV Id:
RCV000933465
dbSNP Id:
rs1596613100
gnomAD v4:
16-1361896-C-T
MyVariant Identifiers:
chr16:g.1411897C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361896C>T , CM000678.2:g.1361896C>T | GRCh38 |
| NC_000016.9:g.1411897C>T , CM000678.1:g.1411897C>T | GRCh37 |
| NC_000016.8:g.1351898C>T | NCBI36 |
| NG_016985.1:g.14998C>T | |
| NG_033129.1:g.57809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.357C>T | ||
| ENST00000529110.2:c.342C>T | ENSP00000435349.2:p.Phe114= | |
| ENST00000529957.6:n.316C>T | ||
| ENST00000683366.1:c.203C>T | ENSP00000507283.1:p.Ser68Phe | |
| ENST00000683887.1:c.306C>T | ENSP00000506886.1:p.Phe102= | |
| ENST00000684100.1:n.252C>T | ||
| ENST00000684126.1:n.316C>T | ||
| ENST00000684688.1:n.883C>T | ||
| ENST00000204679.9:c.258C>T MANE Select | ENSP00000204679.4:p.Phe86= | |
| ENST00000204679.8:c.258C>T | ENSP00000204679.4:p.Phe86= | |
| ENST00000526820.5:c.*160C>T | ENSP00000434413.1:n.*160C>T | |
| ENST00000527076.1:n.1274C>T | ||
| ENST00000527168.5:n.294C>T | ||
| ENST00000529110.1:c.325C>T | ||
| ENST00000529957.5:n.357C>T | ||
| NM_032520.4:c.258C>T | NP_115909.1:p.Phe86= | |
| XM_017023782.1:c.306C>T | XP_016879271.1:p.Phe102= | |
| XM_017023783.1:c.-103C>T | XP_016879272.1:n.-103C>T | |
| NM_032520.5:c.258C>T MANE Select | NP_115909.1:p.Phe86= |