Linked Data
ClinVar Variation Id:
397576
ClinVar RCV Id:
RCV000449522
dbSNP Id:
rs1060499691
gnomAD v4:
16-1361802-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361802G>A , CM000678.2:g.1361802G>A | GRCh38 |
| NC_000016.9:g.1411803G>A , CM000678.1:g.1411803G>A | GRCh37 |
| NC_000016.8:g.1351804G>A | NCBI36 |
| NG_016985.1:g.14904G>A | |
| NG_033129.1:g.57903C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000527168.6:n.332+5G>A | ||
| ENST00000529110.2:c.317+5G>A | ENSP00000435349.2:n.317+5G>A | |
| ENST00000529957.6:n.291+5G>A | ||
| ENST00000683366.1:c.179-70G>A | ENSP00000507283.1:n.179-70G>A | |
| ENST00000683887.1:c.281+5G>A | ENSP00000506886.1:n.281+5G>A | |
| ENST00000684100.1:n.158G>A | ||
| ENST00000684126.1:n.291+5G>A | ||
| ENST00000684688.1:n.858+5G>A | ||
| ENST00000204679.9:c.233+5G>A MANE Select | ENSP00000204679.4:n.233+5G>A | |
| ENST00000204679.8:c.233+5G>A | ENSP00000204679.4:n.233+5G>A | |
| ENST00000526820.5:c.*135+5G>A | ENSP00000434413.1:n.*135+5G>A | |
| ENST00000527076.1:n.1180G>A | ||
| ENST00000527168.5:n.270-70G>A | ||
| ENST00000529110.1:c.300+5G>A | ||
| ENST00000529957.5:n.332+5G>A | ||
| NM_032520.4:c.233+5G>A | NP_115909.1:n.233+5G>A | |
| XM_017023782.1:c.281+5G>A | XP_016879271.1:n.281+5G>A | |
| XM_017023783.1:c.-128+5G>A | XP_016879272.1:n.-128+5G>A | |
| NM_032520.5:c.233+5G>A MANE Select | NP_115909.1:n.233+5G>A |