Linked Data
ClinVar Variation Id:
1665073
ClinVar RCV Id:
RCV002181919
dbSNP Id:
rs1452108519
gnomAD v3:
16-1362328-T-G
gnomAD v4:
16-1362328-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362328T>G , CM000678.2:g.1362328T>G | GRCh38 |
| NC_000016.9:g.1412329T>G , CM000678.1:g.1412329T>G | GRCh37 |
| NC_000016.8:g.1352330T>G | NCBI36 |
| NG_016985.1:g.15430T>G | |
| NG_033129.1:g.57377A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.625+8T>G | ||
| ENST00000529110.2:c.610+8T>G | ENSP00000435349.2:n.610+8T>G | |
| ENST00000529957.6:n.584+8T>G | ||
| ENST00000683366.1:c.*258+8T>G | ENSP00000507283.1:n.*258+8T>G | |
| ENST00000683887.1:c.574+8T>G | ENSP00000506886.1:n.574+8T>G | |
| ENST00000684100.1:n.520+8T>G | ||
| ENST00000684126.1:n.584+8T>G | ||
| ENST00000684688.1:n.1151+8T>G | ||
| ENST00000204679.9:c.526+8T>G MANE Select | ENSP00000204679.4:n.526+8T>G | |
| ENST00000204679.8:c.526+8T>G | ENSP00000204679.4:n.526+8T>G | |
| ENST00000527076.1:n.1550T>G | ||
| ENST00000527168.5:n.570T>G | ||
| ENST00000529957.5:n.625+8T>G | ||
| NM_032520.4:c.526+8T>G | NP_115909.1:n.526+8T>G | |
| XM_017023782.1:c.574+8T>G | XP_016879271.1:n.574+8T>G | |
| XM_017023783.1:c.166+8T>G | XP_016879272.1:n.166+8T>G | |
| NM_032520.5:c.526+8T>G MANE Select | NP_115909.1:n.526+8T>G |