Linked Data
ClinVar Variation Id:
1600273
ClinVar RCV Id:
RCV002132228
dbSNP Id:
rs45478096
ExAC:
19:47984202 C / T
gnomAD v2:
19-47984202-C-T
gnomAD v3:
19-47480945-C-T
gnomAD v4:
19-47480945-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.47480945C>T , CM000681.2:g.47480945C>T | GRCh38 |
| NC_000019.9:g.47984202C>T , CM000681.1:g.47984202C>T | GRCh37 |
| NC_000019.8:g.52676014C>T | NCBI36 |
| NG_034097.1:g.8320G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338134.8:c.525+13G>A MANE Select | ENSP00000337850.2:n.525+13G>A | |
| ENST00000338134.7:c.525+13G>A | ENSP00000337850.2:n.525+13G>A | |
| ENST00000594139.5:n.293+13G>A | ||
| ENST00000594208.5:c.*163+13G>A | ENSP00000470364.1:n.*163+13G>A | |
| ENST00000595484.5:n.496+13G>A | ||
| ENST00000595554.1:c.357+13G>A | ENSP00000469446.1:n.357+13G>A | |
| ENST00000598699.1:n.365+13G>A | ||
| ENST00000600271.5:c.-196+13G>A | ENSP00000472291.1:n.-196+13G>A | |
| ENST00000602193.5:n.477+13G>A | ||
| NM_001291296.1:c.357+13G>A | NP_001278225.1:n.357+13G>A | |
| NM_007059.3:c.525+13G>A | NP_008990.2:n.525+13G>A | |
| NR_111923.1:n.720+13G>A | ||
| XM_011526398.1:c.711+13G>A | XP_011524700.1:n.711+13G>A | |
| XM_011526399.1:c.711+13G>A | XP_011524701.1:n.711+13G>A | |
| XM_011526400.1:c.711+13G>A | XP_011524702.1:n.711+13G>A | |
| XM_011526401.1:c.543+13G>A | XP_011524703.1:n.543+13G>A | |
| XM_017026226.1:c.777+13G>A | XP_016881715.1:n.777+13G>A | |
| XM_017026227.1:c.777+13G>A | XP_016881716.1:n.777+13G>A | |
| XM_017026228.1:c.777+13G>A | XP_016881717.1:n.777+13G>A | |
| XM_024451333.1:c.525+13G>A | XP_024307101.1:n.525+13G>A | |
| XR_001753597.1:n.979+13G>A | ||
| NM_007059.4:c.525+13G>A MANE Select | NP_008990.2:n.525+13G>A | |
| NM_001291296.2:c.357+13G>A | NP_001278225.1:n.357+13G>A | |
| NR_111923.2:n.675+13G>A |