Linked Data
dbSNP Id:
rs202089412
gnomAD v2:
14-89078089-C-G
gnomAD v3:
14-88611745-C-G
gnomAD v4:
14-88611745-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88611745C>G , CM000676.2:g.88611745C>G | GRCh38 |
| NC_000014.8:g.89078089C>G , CM000676.1:g.89078089C>G | GRCh37 |
| NC_000014.7:g.88147842C>G | NCBI36 |
| NG_050601.1:g.53837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251038.10:c.2205C>G MANE Select | ENSP00000251038.5:p.Ser735Arg | |
| ENST00000649731.1:c.*1413C>G | ENSP00000497757.1:n.*1413C>G | |
| ENST00000251038.9:c.2205C>G | ENSP00000251038.5:p.Ser735Arg | |
| ENST00000302216.12:c.1734C>G | ENSP00000307025.8:p.Ser578Arg | |
| ENST00000318308.10:c.915C>G | ENSP00000327176.6:p.Ser305Arg | |
| ENST00000336693.8:c.1710C>G | ENSP00000338002.4:p.Ser570Arg | |
| ENST00000393514.9:c.2130C>G | ENSP00000377150.5:p.Ser710Arg | |
| ENST00000406216.7:c.843C>G | ENSP00000384682.3:p.Ser281Arg | |
| ENST00000554020.5:n.1048C>G | ||
| ENST00000555755.5:c.2187C>G | ENSP00000452475.1:p.Ser729Arg | |
| ENST00000555792.1:c.450C>G | ENSP00000450823.1:p.Ser150Arg | |
| ENST00000555851.6:n.364C>G | ||
| ENST00000555900.5:c.1311C>G | ENSP00000451530.1:p.Ser437Arg | |
| ENST00000556000.5:c.1949C>G | ||
| ENST00000556945.5:c.1812C>G | ENSP00000450474.1:p.Ser604Arg | |
| ENST00000557491.1:n.1490C>G | ||
| ENST00000557607.5:c.1257C>G | ENSP00000452370.1:p.Ser419Arg | |
| NM_001160103.1:c.2202C>G | NP_001153575.1:p.Ser734Arg | |
| NM_001160104.1:c.2187C>G | NP_001153576.1:p.Ser729Arg | |
| NM_024824.4:c.2205C>G | NP_079100.2:p.Ser735Arg | |
| NM_207660.3:c.1734C>G | NP_997543.1:p.Ser578Arg | |
| NM_207661.2:c.1710C>G | NP_997544.1:p.Ser570Arg | |
| NM_207662.3:c.915C>G | NP_997545.2:p.Ser305Arg | |
| XM_005268067.3:c.2190C>G | XP_005268124.1:p.Ser730Arg | |
| XM_005268068.3:c.2130C>G | XP_005268125.1:p.Ser710Arg | |
| XM_005268069.3:c.1812C>G | XP_005268126.1:p.Ser604Arg | |
| XM_005268070.3:c.1809C>G | XP_005268127.1:p.Ser603Arg | |
| XM_005268071.3:c.1737C>G | XP_005268128.1:p.Ser579Arg | |
| XM_005268073.3:c.1311C>G | XP_005268130.1:p.Ser437Arg | |
| XM_006720257.2:c.1236C>G | XP_006720320.1:p.Ser412Arg | |
| XM_011537160.1:c.2103C>G | XP_011535462.1:p.Ser701Arg | |
| XM_011537161.1:c.2049C>G | XP_011535463.1:p.Ser683Arg | |
| NM_001326295.1:c.1812C>G | NP_001313224.1:p.Ser604Arg | |
| NM_001326296.1:c.2127C>G | NP_001313225.1:p.Ser709Arg | |
| NM_001326297.1:c.2103C>G | NP_001313226.1:p.Ser701Arg | |
| NM_001326298.1:c.1737C>G | NP_001313227.1:p.Ser579Arg | |
| NM_001326299.1:c.2112C>G | NP_001313228.1:p.Ser704Arg | |
| NM_001326300.1:c.1740C>G | NP_001313229.1:p.Ser580Arg | |
| NM_001326301.1:c.2028C>G | NP_001313230.1:p.Ser676Arg | |
| NM_001326302.1:c.1737C>G | NP_001313231.1:p.Ser579Arg | |
| NM_001326303.1:c.1632C>G | NP_001313232.1:p.Ser544Arg | |
| NM_001326304.1:c.1344C>G | NP_001313233.1:p.Ser448Arg | |
| NM_001326305.1:c.1665C>G | NP_001313234.1:p.Ser555Arg | |
| NM_001326306.1:c.1578C>G | NP_001313235.1:p.Ser526Arg | |
| NM_001326307.1:c.2130C>G | NP_001313236.1:p.Ser710Arg | |
| NM_001326308.1:c.1347C>G | NP_001313237.1:p.Ser449Arg | |
| NM_001326309.1:c.1272C>G | NP_001313238.1:p.Ser424Arg | |
| NM_001326310.1:c.2190C>G | NP_001313239.1:p.Ser730Arg | |
| NM_001326311.1:c.1269C>G | NP_001313240.1:p.Ser423Arg | |
| NM_001326312.1:c.2115C>G | NP_001313241.1:p.Ser705Arg | |
| NM_001326313.1:c.1581C>G | NP_001313242.1:p.Ser527Arg | |
| NM_001326314.1:c.1662C>G | NP_001313243.1:p.Ser554Arg | |
| NM_001326315.1:c.2100C>G | NP_001313244.1:p.Ser700Arg | |
| NM_001326316.1:c.2100C>G | NP_001313245.1:p.Ser700Arg | |
| NR_136936.1:n.2270C>G | ||
| XM_005268070.5:c.1809C>G | XP_005268127.1:p.Ser603Arg | |
| XM_005268073.4:c.1311C>G | XP_005268130.1:p.Ser437Arg | |
| XM_006720257.3:c.1236C>G | XP_006720320.1:p.Ser412Arg | |
| XM_011537161.3:c.2049C>G | XP_011535463.1:p.Ser683Arg | |
| XM_024449713.1:c.1233C>G | XP_024305481.1:p.Ser411Arg | |
| NM_024824.5:c.2205C>G MANE Select | NP_079100.2:p.Ser735Arg | |
| NM_001160103.2:c.2202C>G | NP_001153575.1:p.Ser734Arg | |
| NM_001160104.2:c.2187C>G | NP_001153576.1:p.Ser729Arg | |
| NM_001326295.2:c.1812C>G | NP_001313224.1:p.Ser604Arg | |
| NM_001326296.2:c.2127C>G | NP_001313225.1:p.Ser709Arg | |
| NM_001326297.2:c.2103C>G | NP_001313226.1:p.Ser701Arg | |
| NM_001326298.2:c.1737C>G | NP_001313227.1:p.Ser579Arg | |
| NM_001326299.2:c.2112C>G | NP_001313228.1:p.Ser704Arg | |
| NM_001326300.2:c.1740C>G | NP_001313229.1:p.Ser580Arg | |
| NM_001326301.2:c.2028C>G | NP_001313230.1:p.Ser676Arg | |
| NM_001326302.2:c.1737C>G | NP_001313231.1:p.Ser579Arg | |
| NM_001326303.2:c.1632C>G | NP_001313232.1:p.Ser544Arg | |
| NM_001326304.2:c.1344C>G | NP_001313233.1:p.Ser448Arg | |
| NM_001326305.2:c.1665C>G | NP_001313234.1:p.Ser555Arg | |
| NM_001326306.2:c.1578C>G | NP_001313235.1:p.Ser526Arg | |
| NM_001326307.2:c.2130C>G | NP_001313236.1:p.Ser710Arg | |
| NM_001326308.2:c.1347C>G | NP_001313237.1:p.Ser449Arg | |
| NM_001326309.2:c.1272C>G | NP_001313238.1:p.Ser424Arg | |
| NM_001326310.2:c.2190C>G | NP_001313239.1:p.Ser730Arg | |
| NM_001326311.2:c.1269C>G | NP_001313240.1:p.Ser423Arg | |
| NM_001326312.2:c.2115C>G | NP_001313241.1:p.Ser705Arg | |
| NM_001326313.2:c.1581C>G | NP_001313242.1:p.Ser527Arg | |
| NM_001326314.2:c.1662C>G | NP_001313243.1:p.Ser554Arg | |
| NM_001326315.2:c.2100C>G | NP_001313244.1:p.Ser700Arg | |
| NM_207660.4:c.1734C>G | NP_997543.1:p.Ser578Arg | |
| NM_207662.4:c.915C>G | NP_997545.2:p.Ser305Arg | |
| NR_136936.2:n.2142C>G | ||
| NM_001326316.2:c.2100C>G | NP_001313245.1:p.Ser700Arg | |
| NM_207661.3:c.1710C>G | NP_997544.1:p.Ser570Arg |