Linked Data
ClinVar Variation Id:
1913656
ClinVar RCV Id:
RCV002589863
MyVariant Identifiers:
chr16:g.1411942C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361941C>T , CM000678.2:g.1361941C>T | GRCh38 |
| NC_000016.9:g.1411942C>T , CM000678.1:g.1411942C>T | GRCh37 |
| NC_000016.8:g.1351943C>T | NCBI36 |
| NG_016985.1:g.15043C>T | |
| NG_033129.1:g.57764G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.402C>T | ||
| ENST00000529110.2:c.387C>T | ENSP00000435349.2:p.Tyr129= | |
| ENST00000529957.6:n.361C>T | ||
| ENST00000683366.1:c.*35C>T | ENSP00000507283.1:n.*35C>T | |
| ENST00000683887.1:c.351C>T | ENSP00000506886.1:p.Tyr117= | |
| ENST00000684100.1:n.297C>T | ||
| ENST00000684126.1:n.361C>T | ||
| ENST00000684688.1:n.928C>T | ||
| ENST00000204679.9:c.303C>T MANE Select | ENSP00000204679.4:p.Tyr101= | |
| ENST00000204679.8:c.303C>T | ENSP00000204679.4:p.Tyr101= | |
| ENST00000526820.5:c.*205C>T | ENSP00000434413.1:n.*205C>T | |
| ENST00000527076.1:n.1319C>T | ||
| ENST00000527168.5:n.339C>T | ||
| ENST00000529110.1:c.370C>T | ||
| ENST00000529957.5:n.402C>T | ||
| NM_032520.4:c.303C>T | NP_115909.1:p.Tyr101= | |
| XM_017023782.1:c.351C>T | XP_016879271.1:p.Tyr117= | |
| XM_017023783.1:c.-58C>T | XP_016879272.1:n.-58C>T | |
| NM_032520.5:c.303C>T MANE Select | NP_115909.1:p.Tyr101= |