Linked Data
ClinVar Variation Id:
1089120
ClinVar RCV Id:
RCV001407854
dbSNP Id:
rs751393135
ExAC:
16:1411869 C / T
gnomAD v4:
16-1361868-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361868C>T , CM000678.2:g.1361868C>T | GRCh38 |
| NC_000016.9:g.1411869C>T , CM000678.1:g.1411869C>T | GRCh37 |
| NC_000016.8:g.1351870C>T | NCBI36 |
| NG_016985.1:g.14970C>T | |
| NG_033129.1:g.57837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.333-4C>T | ||
| ENST00000529110.2:c.318-4C>T | ENSP00000435349.2:n.318-4C>T | |
| ENST00000529957.6:n.292-4C>T | ||
| ENST00000683366.1:c.179-4C>T | ENSP00000507283.1:n.179-4C>T | |
| ENST00000683887.1:c.282-4C>T | ENSP00000506886.1:n.282-4C>T | |
| ENST00000684100.1:n.224C>T | ||
| ENST00000684126.1:n.292-4C>T | ||
| ENST00000684688.1:n.859-4C>T | ||
| ENST00000204679.9:c.234-4C>T MANE Select | ENSP00000204679.4:n.234-4C>T | |
| ENST00000204679.8:c.234-4C>T | ENSP00000204679.4:n.234-4C>T | |
| ENST00000526820.5:c.*136-4C>T | ENSP00000434413.1:n.*136-4C>T | |
| ENST00000527076.1:n.1246C>T | ||
| ENST00000527168.5:n.270-4C>T | ||
| ENST00000529110.1:c.301-4C>T | ||
| ENST00000529957.5:n.333-4C>T | ||
| NM_032520.4:c.234-4C>T | NP_115909.1:n.234-4C>T | |
| XM_017023782.1:c.282-4C>T | XP_016879271.1:n.282-4C>T | |
| XM_017023783.1:c.-127-4C>T | XP_016879272.1:n.-127-4C>T | |
| NM_032520.5:c.234-4C>T MANE Select | NP_115909.1:n.234-4C>T |