Linked Data
ClinVar Variation Id:
1159689
ClinVar RCV Id:
RCV001503501
dbSNP Id:
rs2034936618
gnomAD v4:
16-1362821-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1362821G>C , CM000678.2:g.1362821G>C | GRCh38 |
| NC_000016.9:g.1412822G>C , CM000678.1:g.1412822G>C | GRCh37 |
| NC_000016.8:g.1352823G>C | NCBI36 |
| NG_016985.1:g.15923G>C | |
| NG_033129.1:g.56884C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.841-4G>C | ||
| ENST00000529110.2:c.826-4G>C | ENSP00000435349.2:n.826-4G>C | |
| ENST00000529957.6:n.800-4G>C | ||
| ENST00000683366.1:c.*474-4G>C | ENSP00000507283.1:n.*474-4G>C | |
| ENST00000683887.1:c.790-4G>C | ENSP00000506886.1:n.790-4G>C | |
| ENST00000684100.1:n.736-4G>C | ||
| ENST00000684126.1:n.876-4G>C | ||
| ENST00000684688.1:n.1367-4G>C | ||
| ENST00000204679.9:c.742-4G>C MANE Select | ENSP00000204679.4:n.742-4G>C | |
| ENST00000204679.8:c.742-4G>C | ENSP00000204679.4:n.742-4G>C | |
| ENST00000527076.1:n.1965-4G>C | ||
| ENST00000527168.5:n.909-4G>C | ||
| ENST00000529957.5:n.841-4G>C | ||
| NM_032520.4:c.742-4G>C | NP_115909.1:n.742-4G>C | |
| XM_017023782.1:c.790-4G>C | XP_016879271.1:n.790-4G>C | |
| XM_017023783.1:c.382-4G>C | XP_016879272.1:n.382-4G>C | |
| NM_032520.5:c.742-4G>C MANE Select | NP_115909.1:n.742-4G>C |