Linked Data
ClinVar Variation Id:
496427
ClinVar RCV Id:
RCV000589263
dbSNP Id:
rs935855792
gnomAD v2:
19-44015588-C-T
gnomAD v3:
19-43511436-C-T
gnomAD v4:
19-43511436-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.43511436C>T , CM000681.2:g.43511436C>T | GRCh38 |
| NC_000019.9:g.44015588C>T , CM000681.1:g.44015588C>T | GRCh37 |
| NC_000019.8:g.48707428C>T | NCBI36 |
| NG_008141.1:g.20809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000292147.7:c.505+1G>A MANE Select | ENSP00000292147.1:n.505+1G>A | |
| ENST00000292147.6:c.505+1G>A | ENSP00000292147.1:n.505+1G>A | |
| ENST00000594342.5:c.*68+1G>A | ENSP00000469652.1:n.*68+1G>A | |
| ENST00000598330.1:c.*68+1G>A | ENSP00000469219.1:n.*68+1G>A | |
| ENST00000600651.5:c.505+1G>A | ENSP00000469037.1:n.505+1G>A | |
| NM_014297.3:c.505+1G>A | NP_055112.2:n.505+1G>A | |
| XM_005258687.2:c.424+1G>A | XP_005258744.1:n.424+1G>A | |
| XM_005258688.2:c.136+1G>A | XP_005258745.1:n.136+1G>A | |
| XM_011526685.1:c.227-2572G>A | XP_011524987.1:n.227-2572G>A | |
| NM_001320867.1:c.472+1G>A | NP_001307796.1:n.472+1G>A | |
| NM_001320868.1:c.136+1G>A | NP_001307797.1:n.136+1G>A | |
| NM_001320869.1:c.211+1G>A | NP_001307798.1:n.211+1G>A | |
| NM_014297.4:c.505+1G>A | NP_055112.2:n.505+1G>A | |
| XM_005258687.4:c.424+1G>A | XP_005258744.1:n.424+1G>A | |
| NM_014297.5:c.505+1G>A MANE Select | NP_055112.2:n.505+1G>A | |
| NM_001320867.2:c.472+1G>A | NP_001307796.1:n.472+1G>A | |
| NM_001320868.2:c.136+1G>A | NP_001307797.1:n.136+1G>A | |
| NM_001320869.2:c.211+1G>A | NP_001307798.1:n.211+1G>A |