Linked Data
ClinVar Variation Id:
1537860
ClinVar RCV Id:
RCV002159543
dbSNP Id:
rs372317070
ExAC:
5:78260446 C / T
gnomAD v2:
5-78260446-C-T
gnomAD v3:
5-78964623-C-T
gnomAD v4:
5-78964623-C-T
COSMIC:
COSN7580540
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.78964623C>T , CM000667.2:g.78964623C>T | GRCh38 |
| NC_000005.9:g.78260446C>T , CM000667.1:g.78260446C>T | GRCh37 |
| NC_000005.8:g.78296202C>T | NCBI36 |
| NG_007089.1:g.26912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264914.10:c.500-17G>A MANE Select | ENSP00000264914.4:n.500-17G>A | |
| ENST00000565165.2:c.500-17G>A | ENSP00000456339.2:n.500-17G>A | |
| ENST00000264914.8:c.500-17G>A | ENSP00000264914.4:n.500-17G>A | |
| ENST00000396151.7:c.500-17G>A | ENSP00000379455.3:n.500-17G>A | |
| ENST00000565165.1:c.500-17G>A | ENSP00000456339.1:n.500-17G>A | |
| NM_000046.3:c.500-17G>A | NP_000037.2:n.500-17G>A | |
| NM_198709.2:c.500-17G>A | NP_942002.1:n.500-17G>A | |
| XM_005248506.3:c.500-17G>A | XP_005248563.1:n.500-17G>A | |
| XM_006714615.2:c.500-17G>A | XP_006714678.1:n.500-17G>A | |
| XM_011543390.1:c.500-17G>A | XP_011541692.1:n.500-17G>A | |
| XM_011543391.1:c.500-17G>A | XP_011541693.1:n.500-17G>A | |
| XM_011543392.1:c.500-17G>A | XP_011541694.1:n.500-17G>A | |
| XM_011543393.1:c.500-17G>A | XP_011541695.1:n.500-17G>A | |
| NM_000046.4:c.500-17G>A | NP_000037.2:n.500-17G>A | |
| XM_011543391.3:c.500-17G>A | XP_011541693.1:n.500-17G>A | |
| XM_011543392.3:c.500-17G>A | XP_011541694.1:n.500-17G>A | |
| XM_011543393.2:c.500-17G>A | XP_011541695.1:n.500-17G>A | |
| XM_017009471.2:c.500-17G>A | XP_016864960.1:n.500-17G>A | |
| XR_001742065.2:n.571-17G>A | ||
| XR_001742066.2:n.571-17G>A | ||
| NM_000046.5:c.500-17G>A MANE Select | NP_000037.2:n.500-17G>A | |
| NM_198709.3:c.500-17G>A | NP_942002.1:n.500-17G>A |