Linked Data
dbSNP Id:
rs763809823
ExAC:
14:89077282 C / T
gnomAD v2:
14-89077282-C-T
gnomAD v4:
14-88610938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88610938C>T , CM000676.2:g.88610938C>T | GRCh38 |
| NC_000014.8:g.89077282C>T , CM000676.1:g.89077282C>T | GRCh37 |
| NC_000014.7:g.88147035C>T | NCBI36 |
| NG_050601.1:g.53030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2202C>T MANE Select | ENSP00000251038.5:p.Thr734= | |
| ENST00000649731.1:c.*1410C>T | ENSP00000497757.1:n.*1410C>T | |
| ENST00000251038.9:c.2202C>T | ENSP00000251038.5:p.Thr734= | |
| ENST00000302216.12:c.1731C>T | ENSP00000307025.8:p.Thr577= | |
| ENST00000318308.10:c.912C>T | ENSP00000327176.6:p.Thr304= | |
| ENST00000336693.8:c.1707C>T | ENSP00000338002.4:p.Thr569= | |
| ENST00000393514.9:c.2127C>T | ENSP00000377150.5:p.Thr709= | |
| ENST00000406216.7:c.840C>T | ENSP00000384682.3:p.Thr280= | |
| ENST00000554020.5:n.1045C>T | ||
| ENST00000555755.5:c.2184C>T | ENSP00000452475.1:p.Thr728= | |
| ENST00000555792.1:c.447C>T | ENSP00000450823.1:p.Thr149= | |
| ENST00000555851.6:n.361C>T | ||
| ENST00000555900.5:c.1308C>T | ENSP00000451530.1:p.Thr436= | |
| ENST00000556000.5:c.1946C>T | ||
| ENST00000556945.5:c.1809C>T | ENSP00000450474.1:p.Thr603= | |
| ENST00000557491.1:n.1487C>T | ||
| ENST00000557607.5:c.1254C>T | ENSP00000452370.1:p.Thr418= | |
| NM_001160103.1:c.2199C>T | NP_001153575.1:p.Thr733= | |
| NM_001160104.1:c.2184C>T | NP_001153576.1:p.Thr728= | |
| NM_024824.4:c.2202C>T | NP_079100.2:p.Thr734= | |
| NM_207660.3:c.1731C>T | NP_997543.1:p.Thr577= | |
| NM_207661.2:c.1707C>T | NP_997544.1:p.Thr569= | |
| NM_207662.3:c.912C>T | NP_997545.2:p.Thr304= | |
| XM_005268067.3:c.2187C>T | XP_005268124.1:p.Thr729= | |
| XM_005268068.3:c.2127C>T | XP_005268125.1:p.Thr709= | |
| XM_005268069.3:c.1809C>T | XP_005268126.1:p.Thr603= | |
| XM_005268070.3:c.1806C>T | XP_005268127.1:p.Thr602= | |
| XM_005268071.3:c.1734C>T | XP_005268128.1:p.Thr578= | |
| XM_005268073.3:c.1308C>T | XP_005268130.1:p.Thr436= | |
| XM_006720257.2:c.1233C>T | XP_006720320.1:p.Thr411= | |
| XM_011537160.1:c.2100C>T | XP_011535462.1:p.Thr700= | |
| XM_011537161.1:c.2046C>T | XP_011535463.1:p.Thr682= | |
| NM_001326295.1:c.1809C>T | NP_001313224.1:p.Thr603= | |
| NM_001326296.1:c.2124C>T | NP_001313225.1:p.Thr708= | |
| NM_001326297.1:c.2100C>T | NP_001313226.1:p.Thr700= | |
| NM_001326298.1:c.1734C>T | NP_001313227.1:p.Thr578= | |
| NM_001326299.1:c.2109C>T | NP_001313228.1:p.Thr703= | |
| NM_001326300.1:c.1737C>T | NP_001313229.1:p.Thr579= | |
| NM_001326301.1:c.2025C>T | NP_001313230.1:p.Thr675= | |
| NM_001326302.1:c.1734C>T | NP_001313231.1:p.Thr578= | |
| NM_001326303.1:c.1629C>T | NP_001313232.1:p.Thr543= | |
| NM_001326304.1:c.1341C>T | NP_001313233.1:p.Thr447= | |
| NM_001326305.1:c.1662C>T | NP_001313234.1:p.Thr554= | |
| NM_001326306.1:c.1575C>T | NP_001313235.1:p.Thr525= | |
| NM_001326307.1:c.2127C>T | NP_001313236.1:p.Thr709= | |
| NM_001326308.1:c.1344C>T | NP_001313237.1:p.Thr448= | |
| NM_001326309.1:c.1269C>T | NP_001313238.1:p.Thr423= | |
| NM_001326310.1:c.2187C>T | NP_001313239.1:p.Thr729= | |
| NM_001326311.1:c.1266C>T | NP_001313240.1:p.Thr422= | |
| NM_001326312.1:c.2112C>T | NP_001313241.1:p.Thr704= | |
| NM_001326313.1:c.1578C>T | NP_001313242.1:p.Thr526= | |
| NM_001326314.1:c.1659C>T | NP_001313243.1:p.Thr553= | |
| NM_001326315.1:c.2097C>T | NP_001313244.1:p.Thr699= | |
| NM_001326316.1:c.2097C>T | NP_001313245.1:p.Thr699= | |
| NR_136936.1:n.2267C>T | ||
| XM_005268070.5:c.1806C>T | XP_005268127.1:p.Thr602= | |
| XM_005268073.4:c.1308C>T | XP_005268130.1:p.Thr436= | |
| XM_006720257.3:c.1233C>T | XP_006720320.1:p.Thr411= | |
| XM_011537161.3:c.2046C>T | XP_011535463.1:p.Thr682= | |
| XM_024449713.1:c.1230C>T | XP_024305481.1:p.Thr410= | |
| NM_024824.5:c.2202C>T MANE Select | NP_079100.2:p.Thr734= | |
| NM_001160103.2:c.2199C>T | NP_001153575.1:p.Thr733= | |
| NM_001160104.2:c.2184C>T | NP_001153576.1:p.Thr728= | |
| NM_001326295.2:c.1809C>T | NP_001313224.1:p.Thr603= | |
| NM_001326296.2:c.2124C>T | NP_001313225.1:p.Thr708= | |
| NM_001326297.2:c.2100C>T | NP_001313226.1:p.Thr700= | |
| NM_001326298.2:c.1734C>T | NP_001313227.1:p.Thr578= | |
| NM_001326299.2:c.2109C>T | NP_001313228.1:p.Thr703= | |
| NM_001326300.2:c.1737C>T | NP_001313229.1:p.Thr579= | |
| NM_001326301.2:c.2025C>T | NP_001313230.1:p.Thr675= | |
| NM_001326302.2:c.1734C>T | NP_001313231.1:p.Thr578= | |
| NM_001326303.2:c.1629C>T | NP_001313232.1:p.Thr543= | |
| NM_001326304.2:c.1341C>T | NP_001313233.1:p.Thr447= | |
| NM_001326305.2:c.1662C>T | NP_001313234.1:p.Thr554= | |
| NM_001326306.2:c.1575C>T | NP_001313235.1:p.Thr525= | |
| NM_001326307.2:c.2127C>T | NP_001313236.1:p.Thr709= | |
| NM_001326308.2:c.1344C>T | NP_001313237.1:p.Thr448= | |
| NM_001326309.2:c.1269C>T | NP_001313238.1:p.Thr423= | |
| NM_001326310.2:c.2187C>T | NP_001313239.1:p.Thr729= | |
| NM_001326311.2:c.1266C>T | NP_001313240.1:p.Thr422= | |
| NM_001326312.2:c.2112C>T | NP_001313241.1:p.Thr704= | |
| NM_001326313.2:c.1578C>T | NP_001313242.1:p.Thr526= | |
| NM_001326314.2:c.1659C>T | NP_001313243.1:p.Thr553= | |
| NM_001326315.2:c.2097C>T | NP_001313244.1:p.Thr699= | |
| NM_207660.4:c.1731C>T | NP_997543.1:p.Thr577= | |
| NM_207662.4:c.912C>T | NP_997545.2:p.Thr304= | |
| NR_136936.2:n.2139C>T | ||
| NM_001326316.2:c.2097C>T | NP_001313245.1:p.Thr699= | |
| NM_207661.3:c.1707C>T | NP_997544.1:p.Thr569= |