Linked Data
ClinVar Variation Id:
717950
dbSNP Id:
rs183617466
ExAC:
14:89077294 C / G
gnomAD v2:
14-89077294-C-G
gnomAD v3:
14-88610950-C-G
gnomAD v4:
14-88610950-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610950C>G , CM000676.2:g.88610950C>G | GRCh38 |
| NC_000014.8:g.89077294C>G , CM000676.1:g.89077294C>G | GRCh37 |
| NC_000014.7:g.88147047C>G | NCBI36 |
| NG_050601.1:g.53042C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2204+10C>G MANE Select | ENSP00000251038.5:n.2204+10C>G | |
| ENST00000649731.1:c.*1412+10C>G | ENSP00000497757.1:n.*1412+10C>G | |
| ENST00000251038.9:c.2204+10C>G | ENSP00000251038.5:n.2204+10C>G | |
| ENST00000302216.12:c.1733+10C>G | ENSP00000307025.8:n.1733+10C>G | |
| ENST00000318308.10:c.914+10C>G | ENSP00000327176.6:n.914+10C>G | |
| ENST00000336693.8:c.1709+10C>G | ENSP00000338002.4:n.1709+10C>G | |
| ENST00000393514.9:c.2129+10C>G | ENSP00000377150.5:n.2129+10C>G | |
| ENST00000406216.7:c.842+10C>G | ENSP00000384682.3:n.842+10C>G | |
| ENST00000554020.5:n.1047+10C>G | ||
| ENST00000555755.5:c.2186+10C>G | ENSP00000452475.1:n.2186+10C>G | |
| ENST00000555792.1:c.449+10C>G | ENSP00000450823.1:n.449+10C>G | |
| ENST00000555851.6:n.363+10C>G | ||
| ENST00000555900.5:c.1310+10C>G | ENSP00000451530.1:n.1310+10C>G | |
| ENST00000556000.5:c.1948+10C>G | ||
| ENST00000556945.5:c.1811+10C>G | ENSP00000450474.1:n.1811+10C>G | |
| ENST00000557491.1:n.1489+10C>G | ||
| ENST00000557607.5:c.1256+10C>G | ENSP00000452370.1:n.1256+10C>G | |
| NM_001160103.1:c.2201+10C>G | NP_001153575.1:n.2201+10C>G | |
| NM_001160104.1:c.2186+10C>G | NP_001153576.1:n.2186+10C>G | |
| NM_024824.4:c.2204+10C>G | NP_079100.2:n.2204+10C>G | |
| NM_207660.3:c.1733+10C>G | NP_997543.1:n.1733+10C>G | |
| NM_207661.2:c.1709+10C>G | NP_997544.1:n.1709+10C>G | |
| NM_207662.3:c.914+10C>G | NP_997545.2:n.914+10C>G | |
| XM_005268067.3:c.2189+10C>G | XP_005268124.1:n.2189+10C>G | |
| XM_005268068.3:c.2129+10C>G | XP_005268125.1:n.2129+10C>G | |
| XM_005268069.3:c.1811+10C>G | XP_005268126.1:n.1811+10C>G | |
| XM_005268070.3:c.1808+10C>G | XP_005268127.1:n.1808+10C>G | |
| XM_005268071.3:c.1736+10C>G | XP_005268128.1:n.1736+10C>G | |
| XM_005268073.3:c.1310+10C>G | XP_005268130.1:n.1310+10C>G | |
| XM_006720257.2:c.1235+10C>G | XP_006720320.1:n.1235+10C>G | |
| XM_011537160.1:c.2102+10C>G | XP_011535462.1:n.2102+10C>G | |
| XM_011537161.1:c.2048+10C>G | XP_011535463.1:n.2048+10C>G | |
| NM_001326295.1:c.1811+10C>G | NP_001313224.1:n.1811+10C>G | |
| NM_001326296.1:c.2126+10C>G | NP_001313225.1:n.2126+10C>G | |
| NM_001326297.1:c.2102+10C>G | NP_001313226.1:n.2102+10C>G | |
| NM_001326298.1:c.1736+10C>G | NP_001313227.1:n.1736+10C>G | |
| NM_001326299.1:c.2111+10C>G | NP_001313228.1:n.2111+10C>G | |
| NM_001326300.1:c.1739+10C>G | NP_001313229.1:n.1739+10C>G | |
| NM_001326301.1:c.2027+10C>G | NP_001313230.1:n.2027+10C>G | |
| NM_001326302.1:c.1736+10C>G | NP_001313231.1:n.1736+10C>G | |
| NM_001326303.1:c.1631+10C>G | NP_001313232.1:n.1631+10C>G | |
| NM_001326304.1:c.1343+10C>G | NP_001313233.1:n.1343+10C>G | |
| NM_001326305.1:c.1664+10C>G | NP_001313234.1:n.1664+10C>G | |
| NM_001326306.1:c.1577+10C>G | NP_001313235.1:n.1577+10C>G | |
| NM_001326307.1:c.2129+10C>G | NP_001313236.1:n.2129+10C>G | |
| NM_001326308.1:c.1346+10C>G | NP_001313237.1:n.1346+10C>G | |
| NM_001326309.1:c.1271+10C>G | NP_001313238.1:n.1271+10C>G | |
| NM_001326310.1:c.2189+10C>G | NP_001313239.1:n.2189+10C>G | |
| NM_001326311.1:c.1268+10C>G | NP_001313240.1:n.1268+10C>G | |
| NM_001326312.1:c.2114+10C>G | NP_001313241.1:n.2114+10C>G | |
| NM_001326313.1:c.1580+10C>G | NP_001313242.1:n.1580+10C>G | |
| NM_001326314.1:c.1661+10C>G | NP_001313243.1:n.1661+10C>G | |
| NM_001326315.1:c.2099+10C>G | NP_001313244.1:n.2099+10C>G | |
| NM_001326316.1:c.2099+10C>G | NP_001313245.1:n.2099+10C>G | |
| NR_136936.1:n.2269+10C>G | ||
| XM_005268070.5:c.1808+10C>G | XP_005268127.1:n.1808+10C>G | |
| XM_005268073.4:c.1310+10C>G | XP_005268130.1:n.1310+10C>G | |
| XM_006720257.3:c.1235+10C>G | XP_006720320.1:n.1235+10C>G | |
| XM_011537161.3:c.2048+10C>G | XP_011535463.1:n.2048+10C>G | |
| XM_024449713.1:c.1232+10C>G | XP_024305481.1:n.1232+10C>G | |
| NM_024824.5:c.2204+10C>G MANE Select | NP_079100.2:n.2204+10C>G | |
| NM_001160103.2:c.2201+10C>G | NP_001153575.1:n.2201+10C>G | |
| NM_001160104.2:c.2186+10C>G | NP_001153576.1:n.2186+10C>G | |
| NM_001326295.2:c.1811+10C>G | NP_001313224.1:n.1811+10C>G | |
| NM_001326296.2:c.2126+10C>G | NP_001313225.1:n.2126+10C>G | |
| NM_001326297.2:c.2102+10C>G | NP_001313226.1:n.2102+10C>G | |
| NM_001326298.2:c.1736+10C>G | NP_001313227.1:n.1736+10C>G | |
| NM_001326299.2:c.2111+10C>G | NP_001313228.1:n.2111+10C>G | |
| NM_001326300.2:c.1739+10C>G | NP_001313229.1:n.1739+10C>G | |
| NM_001326301.2:c.2027+10C>G | NP_001313230.1:n.2027+10C>G | |
| NM_001326302.2:c.1736+10C>G | NP_001313231.1:n.1736+10C>G | |
| NM_001326303.2:c.1631+10C>G | NP_001313232.1:n.1631+10C>G | |
| NM_001326304.2:c.1343+10C>G | NP_001313233.1:n.1343+10C>G | |
| NM_001326305.2:c.1664+10C>G | NP_001313234.1:n.1664+10C>G | |
| NM_001326306.2:c.1577+10C>G | NP_001313235.1:n.1577+10C>G | |
| NM_001326307.2:c.2129+10C>G | NP_001313236.1:n.2129+10C>G | |
| NM_001326308.2:c.1346+10C>G | NP_001313237.1:n.1346+10C>G | |
| NM_001326309.2:c.1271+10C>G | NP_001313238.1:n.1271+10C>G | |
| NM_001326310.2:c.2189+10C>G | NP_001313239.1:n.2189+10C>G | |
| NM_001326311.2:c.1268+10C>G | NP_001313240.1:n.1268+10C>G | |
| NM_001326312.2:c.2114+10C>G | NP_001313241.1:n.2114+10C>G | |
| NM_001326313.2:c.1580+10C>G | NP_001313242.1:n.1580+10C>G | |
| NM_001326314.2:c.1661+10C>G | NP_001313243.1:n.1661+10C>G | |
| NM_001326315.2:c.2099+10C>G | NP_001313244.1:n.2099+10C>G | |
| NM_207660.4:c.1733+10C>G | NP_997543.1:n.1733+10C>G | |
| NM_207662.4:c.914+10C>G | NP_997545.2:n.914+10C>G | |
| NR_136936.2:n.2141+10C>G | ||
| NM_001326316.2:c.2099+10C>G | NP_001313245.1:n.2099+10C>G | |
| NM_207661.3:c.1709+10C>G | NP_997544.1:n.1709+10C>G |