Linked Data
ClinVar Variation Id:
88649
dbSNP Id:
rs375050420
ExAC:
10:61835934 A / C
gnomAD v2:
10-61835934-A-C
gnomAD v3:
10-60076176-A-C
gnomAD v4:
10-60076176-A-C
PubMed:
PMID:22865819
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60076176A>C , CM000672.2:g.60076176A>C | GRCh38 |
| NC_000010.10:g.61835934A>C , CM000672.1:g.61835934A>C | GRCh37 |
| NC_000010.9:g.61505940A>C | NCBI36 |
| NG_029917.1:g.662351T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.4489+4361T>G | ENSP00000423968.2:n.4489+4361T>G | |
| ENST00000503366.6:c.4408+4361T>G | ENSP00000425236.1:n.4408+4361T>G | |
| ENST00000280772.7:c.4705T>G MANE Select | ENSP00000280772.1:p.Ser1569Ala | |
| ENST00000280772.6:c.4705T>G | ENSP00000280772.1:p.Ser1569Ala | |
| ENST00000355288.6:c.1807+4361T>G | ENSP00000347436.2:n.1807+4361T>G | |
| ENST00000373820.5:c.181+4361T>G | ENSP00000362926.1:n.181+4361T>G | |
| ENST00000373827.6:c.4387+4361T>G | ENSP00000362933.2:n.4387+4361T>G | |
| ENST00000503366.5:c.4408+4361T>G | ENSP00000425236.1:n.4408+4361T>G | |
| ENST00000511043.5:c.84+4361T>G | ||
| ENST00000610321.4:c.1736T>G | ||
| ENST00000616444.4:c.1223+4397T>G | ||
| ENST00000618374.4:c.1807+4361T>G | ENSP00000479018.1:n.1807+4361T>G | |
| NM_001149.3:c.1807+4361T>G | NP_001140.2:n.1807+4361T>G | |
| NM_001204403.1:c.4387+4361T>G | NP_001191332.1:n.4387+4361T>G | |
| NM_001204404.1:c.4408+4361T>G | NP_001191333.1:n.4408+4361T>G | |
| NM_020987.3:c.4705T>G | NP_066267.2:p.Ser1569Ala | |
| XM_005269715.2:c.4459+4361T>G | XP_005269772.1:n.4459+4361T>G | |
| XM_005269716.2:c.4405+4361T>G | XP_005269773.1:n.4405+4361T>G | |
| XM_006717791.2:c.4777T>G | XP_006717854.1:p.Ser1593Ala | |
| XM_006717793.2:c.4777T>G | XP_006717856.1:p.Ser1593Ala | |
| XM_006717795.2:c.4777T>G | XP_006717858.1:p.Ser1593Ala | |
| XM_006717796.2:c.4777T>G | XP_006717859.1:p.Ser1593Ala | |
| XM_006717802.2:c.4498+4361T>G | XP_006717865.1:n.4498+4361T>G | |
| XM_011539700.1:c.4765T>G | XP_011538002.1:p.Ser1589Ala | |
| XM_011539701.1:c.4759T>G | XP_011538003.1:p.Ser1587Ala | |
| XM_011539702.1:c.4720T>G | XP_011538004.1:p.Ser1574Ala | |
| XM_011539703.1:c.4699T>G | XP_011538005.1:p.Ser1567Ala | |
| XM_011539704.1:c.4678T>G | XP_011538006.1:p.Ser1560Ala | |
| XM_011539705.1:c.4678T>G | XP_011538007.1:p.Ser1560Ala | |
| XM_011539706.1:c.4666T>G | XP_011538008.1:p.Ser1556Ala | |
| XM_011539707.1:c.4777T>G | XP_011538009.1:p.Ser1593Ala | |
| XM_011539708.1:c.4777T>G | XP_011538010.1:p.Ser1593Ala | |
| XM_011539709.1:c.4777T>G | XP_011538011.1:p.Ser1593Ala | |
| XM_011539710.1:c.4498+4361T>G | XP_011538012.1:n.4498+4361T>G | |
| XM_011539711.1:c.4471+4361T>G | XP_011538013.1:n.4471+4361T>G | |
| XM_011539712.1:c.4462+4397T>G | XP_011538014.1:n.4462+4397T>G | |
| XM_011539713.1:c.4435+4397T>G | XP_011538015.1:n.4435+4397T>G | |
| XM_011539714.1:c.2125T>G | XP_011538016.1:p.Ser709Ala | |
| XM_011539715.1:c.2113T>G | XP_011538017.1:p.Ser705Ala | |
| XM_011539716.1:c.4471+4361T>G | XP_011538018.1:n.4471+4361T>G | |
| XM_011539717.1:c.4459+4361T>G | XP_011538019.1:n.4459+4361T>G | |
| XM_011539718.1:c.4342+4361T>G | XP_011538020.1:n.4342+4361T>G | |
| NM_001320874.1:c.4405+4361T>G | NP_001307803.1:n.4405+4361T>G | |
| NM_020987.4:c.4705T>G | NP_066267.2:p.Ser1569Ala | |
| XM_005269715.3:c.4459+4361T>G | XP_005269772.1:n.4459+4361T>G | |
| XM_006717796.3:c.4777T>G | XP_006717859.1:p.Ser1593Ala | |
| XM_006717802.3:c.4498+4361T>G | XP_006717865.1:n.4498+4361T>G | |
| XM_011539708.2:c.4777T>G | XP_011538010.1:p.Ser1593Ala | |
| XM_011539709.2:c.4777T>G | XP_011538011.1:p.Ser1593Ala | |
| XM_017016110.1:c.4777T>G | XP_016871599.1:p.Ser1593Ala | |
| XM_017016111.1:c.4765T>G | XP_016871600.1:p.Ser1589Ala | |
| XM_017016112.1:c.4762T>G | XP_016871601.1:p.Ser1588Ala | |
| XM_017016113.1:c.4750T>G | XP_016871602.1:p.Ser1584Ala | |
| XM_017016114.1:c.4726T>G | XP_016871603.1:p.Ser1576Ala | |
| XM_017016115.1:c.4699T>G | XP_016871604.1:p.Ser1567Ala | |
| XM_017016116.1:c.4777T>G | XP_016871605.1:p.Ser1593Ala | |
| XM_017016117.1:c.4777T>G | XP_016871606.1:p.Ser1593Ala | |
| XM_017016118.1:c.4777T>G | XP_016871607.1:p.Ser1593Ala | |
| XM_017016119.1:c.4777T>G | XP_016871608.1:p.Ser1593Ala | |
| XM_017016120.1:c.4777T>G | XP_016871609.1:p.Ser1593Ala | |
| XM_017016121.1:c.4750T>G | XP_016871610.1:p.Ser1584Ala | |
| XM_017016122.1:c.4684T>G | XP_016871611.1:p.Ser1562Ala | |
| XM_017016123.1:c.4777T>G | XP_016871612.1:p.Ser1593Ala | |
| XM_017016124.1:c.4750T>G | XP_016871613.1:p.Ser1584Ala | |
| XM_017016125.1:c.4750T>G | XP_016871614.1:p.Ser1584Ala | |
| XM_017016126.1:c.4645T>G | XP_016871615.1:p.Ser1549Ala | |
| XM_017016127.1:c.4618T>G | XP_016871616.1:p.Ser1540Ala | |
| XM_017016128.1:c.4471+4361T>G | XP_016871617.1:n.4471+4361T>G | |
| XM_017016129.1:c.4471+4361T>G | XP_016871618.1:n.4471+4361T>G | |
| XM_017016130.1:c.4405+4361T>G | XP_016871619.1:n.4405+4361T>G | |
| XM_017016131.1:c.4390+4361T>G | XP_016871620.1:n.4390+4361T>G | |
| XM_017016132.1:c.4369+4397T>G | XP_016871621.1:n.4369+4397T>G | |
| XM_017016134.1:c.4339+4361T>G | XP_016871623.1:n.4339+4361T>G | |
| XM_017016136.1:c.4498+4361T>G | XP_016871625.1:n.4498+4361T>G | |
| XM_017016137.1:c.4471+4361T>G | XP_016871626.1:n.4471+4361T>G | |
| XM_017016138.1:c.4471+4361T>G | XP_016871627.1:n.4471+4361T>G | |
| XM_017016141.1:c.4366+4361T>G | XP_016871630.1:n.4366+4361T>G | |
| XM_024447953.1:c.4750T>G | XP_024303721.1:p.Ser1584Ala | |
| XM_024447954.1:c.4723T>G | XP_024303722.1:p.Ser1575Ala | |
| XM_024447955.1:c.4714T>G | XP_024303723.1:p.Ser1572Ala | |
| XM_024447956.1:c.4711T>G | XP_024303724.1:p.Ser1571Ala | |
| XM_024447957.1:c.4678T>G | XP_024303725.1:p.Ser1560Ala | |
| XM_024447958.1:c.4660T>G | XP_024303726.1:p.Ser1554Ala | |
| XM_024447959.1:c.4660T>G | XP_024303727.1:p.Ser1554Ala | |
| XM_024447960.1:c.4648T>G | XP_024303728.1:p.Ser1550Ala | |
| XM_024447961.1:c.4645T>G | XP_024303729.1:p.Ser1549Ala | |
| XM_024447962.1:c.4750T>G | XP_024303730.1:p.Ser1584Ala | |
| XM_024447963.1:c.4777T>G | XP_024303731.1:p.Ser1593Ala | |
| XM_024447964.1:c.4435+4397T>G | XP_024303732.1:n.4435+4397T>G | |
| XM_024447965.1:c.4462+4397T>G | XP_024303733.1:n.4462+4397T>G | |
| NM_020987.5:c.4705T>G MANE Select | NP_066267.2:p.Ser1569Ala | |
| NM_001204403.2:c.4387+4361T>G | NP_001191332.1:n.4387+4361T>G | |
| NM_001204404.2:c.4408+4361T>G | NP_001191333.1:n.4408+4361T>G | |
| NM_001320874.2:c.4405+4361T>G | NP_001307803.1:n.4405+4361T>G | |
| NM_001149.4:c.1807+4361T>G | NP_001140.2:n.1807+4361T>G |