Linked Data
ClinVar Variation Id:
2915445
ClinVar RCV Id:
RCV003740016
dbSNP Id:
rs1269605991
gnomAD v2:
3-128628279-C-G
gnomAD v3:
3-128909436-C-G
gnomAD v4:
3-128909436-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128909436C>G , CM000665.2:g.128909436C>G | GRCh38 |
| NC_000003.11:g.128628279C>G , CM000665.1:g.128628279C>G | GRCh37 |
| NC_000003.10:g.130110969C>G | NCBI36 |
| NG_017064.1:g.34947C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.1563+15C>G MANE Select | ENSP00000312618.7:n.1563+15C>G | |
| ENST00000511325.2:n.1656C>G | ||
| ENST00000679399.1:c.*1734+15C>G | ENSP00000505434.1:n.*1734+15C>G | |
| ENST00000679431.1:c.*1439+15C>G | ENSP00000506440.1:n.*1439+15C>G | |
| ENST00000679613.1:c.1563+15C>G | ENSP00000504971.1:n.1563+15C>G | |
| ENST00000679715.1:c.1194+15C>G | ENSP00000506228.1:n.1194+15C>G | |
| ENST00000679824.1:c.*2869+15C>G | ENSP00000505516.1:n.*2869+15C>G | |
| ENST00000679990.1:n.1813C>G | ||
| ENST00000680636.1:c.1563+15C>G | ENSP00000504886.1:n.1563+15C>G | |
| ENST00000680638.1:n.1331C>G | ||
| ENST00000680744.1:c.*916+15C>G | ENSP00000505243.1:n.*916+15C>G | |
| ENST00000680764.1:c.*2967+15C>G | ENSP00000505126.1:n.*2967+15C>G | |
| ENST00000681319.1:n.2349+15C>G | ||
| ENST00000681367.1:c.1563+15C>G | ENSP00000505309.1:n.1563+15C>G | |
| ENST00000681552.1:c.1150-3071C>G | ENSP00000505699.1:n.1150-3071C>G | |
| ENST00000681583.1:c.1563+15C>G | ENSP00000506340.1:n.1563+15C>G | |
| ENST00000681585.1:c.*182+15C>G | ENSP00000506316.1:n.*182+15C>G | |
| ENST00000681784.1:n.1656C>G | ||
| ENST00000681886.1:c.*771C>G | ENSP00000506500.1:n.*771C>G | |
| ENST00000308982.11:c.1563+15C>G | ENSP00000312618.7:n.1563+15C>G | |
| ENST00000505867.5:c.*1363+15C>G | ENSP00000425346.1:n.*1363+15C>G | |
| ENST00000508971.1:c.852+15C>G | ENSP00000422683.1:n.852+15C>G | |
| ENST00000511227.5:c.*1457+15C>G | ENSP00000425226.1:n.*1457+15C>G | |
| ENST00000511325.1:n.559C>G | ||
| ENST00000511526.5:n.1096+15C>G | ||
| NM_014049.4:c.1563+15C>G | NP_054768.2:n.1563+15C>G | |
| NR_033426.1:n.1941+15C>G | ||
| XM_011512742.1:c.1194+15C>G | XP_011511044.1:n.1194+15C>G | |
| XM_024453484.1:c.1194+15C>G | XP_024309252.1:n.1194+15C>G | |
| XM_024453485.1:c.1194+15C>G | XP_024309253.1:n.1194+15C>G | |
| XR_427367.3:n.1639+15C>G | ||
| NM_014049.5:c.1563+15C>G MANE Select | NP_054768.2:n.1563+15C>G | |
| NR_033426.2:n.1811+15C>G |