Linked Data
ClinVar Variation Id:
518431
ClinVar RCV Id:
RCV000610672
dbSNP Id:
rs1554292820
gnomAD v4:
6-42937840-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42937840G>A , CM000668.2:g.42937840G>A | GRCh38 |
| NC_000006.11:g.42905578G>A , CM000668.1:g.42905578G>A | GRCh37 |
| NC_000006.10:g.43013556G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372836.5:c.495+1G>A MANE Select | ENSP00000361926.4:n.495+1G>A | |
| ENST00000372836.4:c.495+1G>A | ENSP00000361926.4:n.495+1G>A | |
| ENST00000394142.7:c.*62+1G>A | ENSP00000377698.4:n.*62+1G>A | |
| NM_006586.3:c.495+1G>A | NP_006577.2:n.495+1G>A | |
| XM_005248815.2:c.594+1G>A | XP_005248872.1:n.594+1G>A | |
| XM_005248817.1:c.228+1G>A | XP_005248874.1:n.228+1G>A | |
| XM_005248818.1:c.120+1G>A | XP_005248875.1:n.120+1G>A | |
| XM_006714967.2:c.327+1G>A | XP_006715030.1:n.327+1G>A | |
| XM_006714968.1:c.120+1G>A | XP_006715031.1:n.120+1G>A | |
| XM_011514252.1:c.516+1G>A | XP_011512554.1:n.516+1G>A | |
| NM_001318842.1:c.594+1G>A | NP_001305771.1:n.594+1G>A | |
| NM_001318845.1:c.228+1G>A | NP_001305774.1:n.228+1G>A | |
| NM_001318856.1:c.8+8119G>A | NP_001305785.1:n.8+8119G>A | |
| NM_001318857.1:c.151+8119G>A | NP_001305786.1:n.151+8119G>A | |
| NM_001318858.1:c.151+8119G>A | NP_001305787.1:n.151+8119G>A | |
| NM_006586.4:c.495+1G>A | NP_006577.2:n.495+1G>A | |
| NR_134880.1:n.998+1G>A | ||
| NR_134881.1:n.2191+1G>A | ||
| NR_134882.1:n.874+1G>A | ||
| NR_134888.1:n.690-250G>A | ||
| NR_134890.1:n.689+2170G>A | ||
| NR_134891.1:n.592+8119G>A | ||
| NR_134892.1:n.592+8119G>A | ||
| NM_001318856.2:c.8+8119G>A | NP_001305785.1:n.8+8119G>A | |
| NM_001318857.2:c.151+8119G>A | NP_001305786.1:n.151+8119G>A | |
| NM_001318858.2:c.151+8119G>A | NP_001305787.1:n.151+8119G>A | |
| NM_006586.5:c.495+1G>A MANE Select | NP_006577.2:n.495+1G>A | |
| NR_134890.2:n.339+2170G>A | ||
| NR_134891.2:n.242+8119G>A | ||
| NR_134892.2:n.242+8119G>A |