Linked Data
ClinVar Variation Id:
2165358
ClinVar RCV Id:
RCV003089935
dbSNP Id:
rs1008090206
gnomAD v4:
17-50185772-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185772A>G , CM000679.2:g.50185772A>G | GRCh38 |
| NC_000017.10:g.48263133A>G , CM000679.1:g.48263133A>G | GRCh37 |
| NC_000017.9:g.45618132A>G | NCBI36 |
| NG_007400.1:g.20868T>C , LRG_1:g.20868T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4248+6T>C MANE Select | ENSP00000225964.6:n.4248+6T>C | |
| ENST00000225964.9:c.4248+6T>C | ENSP00000225964.5:n.4248+6T>C | |
| NM_000088.3:c.4248+6T>C , LRG_1t1:c.4248+6T>C | NP_000079.2:n.4248+6T>C | |
| XM_005257058.3:c.3978+6T>C | XP_005257115.2:n.3978+6T>C | |
| XM_005257059.3:c.3330+6T>C | XP_005257116.2:n.3330+6T>C | |
| XM_011524341.1:c.4050+6T>C | XP_011522643.1:n.4050+6T>C | |
| XM_005257058.4:c.3978+6T>C | XP_005257115.2:n.3978+6T>C | |
| XM_005257059.4:c.3330+6T>C | XP_005257116.2:n.3330+6T>C | |
| NM_000088.4:c.4248+6T>C MANE Select | NP_000079.2:n.4248+6T>C |