Linked Data
ClinVar Variation Id:
3016435
ClinVar RCV Id:
RCV003876586
dbSNP Id:
rs1286630638
gnomAD v2:
16-1411967-C-T
gnomAD v4:
16-1361966-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361966C>T , CM000678.2:g.1361966C>T | GRCh38 |
| NC_000016.9:g.1411967C>T , CM000678.1:g.1411967C>T | GRCh37 |
| NC_000016.8:g.1351968C>T | NCBI36 |
| NG_016985.1:g.15068C>T | |
| NG_033129.1:g.57739G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.416+11C>T | ||
| ENST00000529110.2:c.401+11C>T | ENSP00000435349.2:n.401+11C>T | |
| ENST00000529957.6:n.375+11C>T | ||
| ENST00000683366.1:c.*49+11C>T | ENSP00000507283.1:n.*49+11C>T | |
| ENST00000683887.1:c.365+11C>T | ENSP00000506886.1:n.365+11C>T | |
| ENST00000684100.1:n.311+11C>T | ||
| ENST00000684126.1:n.375+11C>T | ||
| ENST00000684688.1:n.942+11C>T | ||
| ENST00000204679.9:c.317+11C>T MANE Select | ENSP00000204679.4:n.317+11C>T | |
| ENST00000204679.8:c.317+11C>T | ENSP00000204679.4:n.317+11C>T | |
| ENST00000526820.5:c.*219+11C>T | ENSP00000434413.1:n.*219+11C>T | |
| ENST00000527076.1:n.1333+11C>T | ||
| ENST00000527168.5:n.353+11C>T | ||
| ENST00000529110.1:c.384+11C>T | ||
| ENST00000529957.5:n.416+11C>T | ||
| NM_032520.4:c.317+11C>T | NP_115909.1:n.317+11C>T | |
| XM_017023782.1:c.365+11C>T | XP_016879271.1:n.365+11C>T | |
| XM_017023783.1:c.-44+11C>T | XP_016879272.1:n.-44+11C>T | |
| NM_032520.5:c.317+11C>T MANE Select | NP_115909.1:n.317+11C>T |