Linked Data
ClinVar Variation Id:
128363
dbSNP Id:
rs12261793
ExAC:
10:61815712 T / C
gnomAD v2:
10-61815712-T-C
gnomAD v3:
10-60055954-T-C
gnomAD v4:
10-60055954-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60055954T>C , CM000672.2:g.60055954T>C | GRCh38 |
| NC_000010.10:g.61815712T>C , CM000672.1:g.61815712T>C | GRCh37 |
| NC_000010.9:g.61485718T>C | NCBI36 |
| NG_029917.1:g.682573A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467420.7:c.5014A>G | ENSP00000423968.2:p.Ile1672Val | |
| ENST00000503366.6:c.5242A>G | ENSP00000425236.1:p.Ile1748Val | |
| ENST00000280772.7:c.12769A>G MANE Select | ENSP00000280772.1:p.Ile4257Val | |
| ENST00000280772.6:c.12769A>G | ENSP00000280772.1:p.Ile4257Val | |
| ENST00000355288.6:c.2641A>G | ENSP00000347436.2:p.Ile881Val | |
| ENST00000373820.5:c.1015A>G | ENSP00000362926.1:p.Ile339Val | |
| ENST00000373827.6:c.5221A>G | ENSP00000362933.2:p.Ile1741Val | |
| ENST00000469721.3:n.560A>G | ||
| ENST00000502769.5:c.85A>G | ENSP00000423057.1:p.Ile29Val | |
| ENST00000503366.5:c.5242A>G | ENSP00000425236.1:p.Ile1748Val | |
| ENST00000610321.4:c.4565A>G | ||
| ENST00000612776.4:c.174A>G | ||
| ENST00000616444.4:c.2324A>G | ||
| ENST00000618374.4:c.*204A>G | ENSP00000479018.1:n.*204A>G | |
| NM_001149.3:c.2641A>G | NP_001140.2:p.Ile881Val | |
| NM_001204403.1:c.5221A>G | NP_001191332.1:p.Ile1741Val | |
| NM_001204404.1:c.5242A>G | NP_001191333.1:p.Ile1748Val | |
| NM_020987.3:c.12769A>G | NP_066267.2:p.Ile4257Val | |
| XM_005269715.2:c.5293A>G | XP_005269772.1:p.Ile1765Val | |
| XM_005269716.2:c.5239A>G | XP_005269773.1:p.Ile1747Val | |
| XM_006717791.2:c.7915A>G | XP_006717854.1:p.Ile2639Val | |
| XM_006717793.2:c.7915A>G | XP_006717856.1:p.Ile2639Val | |
| XM_006717795.2:c.7915A>G | XP_006717858.1:p.Ile2639Val | |
| XM_006717796.2:c.7915A>G | XP_006717859.1:p.Ile2639Val | |
| XM_006717802.2:c.5332A>G | XP_006717865.1:p.Ile1778Val | |
| XM_011539700.1:c.7903A>G | XP_011538002.1:p.Ile2635Val | |
| XM_011539701.1:c.7897A>G | XP_011538003.1:p.Ile2633Val | |
| XM_011539702.1:c.7858A>G | XP_011538004.1:p.Ile2620Val | |
| XM_011539703.1:c.7837A>G | XP_011538005.1:p.Ile2613Val | |
| XM_011539704.1:c.7816A>G | XP_011538006.1:p.Ile2606Val | |
| XM_011539705.1:c.7816A>G | XP_011538007.1:p.Ile2606Val | |
| XM_011539706.1:c.7804A>G | XP_011538008.1:p.Ile2602Val | |
| XM_011539707.1:c.7915A>G | XP_011538009.1:p.Ile2639Val | |
| XM_011539708.1:c.7915A>G | XP_011538010.1:p.Ile2639Val | |
| XM_011539709.1:c.7606A>G | XP_011538011.1:p.Ile2536Val | |
| XM_011539710.1:c.5332A>G | XP_011538012.1:p.Ile1778Val | |
| XM_011539711.1:c.5305A>G | XP_011538013.1:p.Ile1769Val | |
| XM_011539712.1:c.5296A>G | XP_011538014.1:p.Ile1766Val | |
| XM_011539713.1:c.5269A>G | XP_011538015.1:p.Ile1757Val | |
| XM_011539714.1:c.5263A>G | XP_011538016.1:p.Ile1755Val | |
| XM_011539715.1:c.5251A>G | XP_011538017.1:p.Ile1751Val | |
| XM_011539716.1:c.5125A>G | XP_011538018.1:p.Ile1709Val | |
| XM_011539717.1:c.4984A>G | XP_011538019.1:p.Ile1662Val | |
| XM_011539718.1:c.4867A>G | XP_011538020.1:p.Ile1623Val | |
| NM_001320874.1:c.5239A>G | NP_001307803.1:p.Ile1747Val | |
| NM_020987.4:c.12769A>G | NP_066267.2:p.Ile4257Val | |
| XM_005269715.3:c.5293A>G | XP_005269772.1:p.Ile1765Val | |
| XM_006717796.3:c.7915A>G | XP_006717859.1:p.Ile2639Val | |
| XM_006717802.3:c.5332A>G | XP_006717865.1:p.Ile1778Val | |
| XM_011539708.2:c.7915A>G | XP_011538010.1:p.Ile2639Val | |
| XM_011539709.2:c.7606A>G | XP_011538011.1:p.Ile2536Val | |
| XM_017016110.1:c.13150A>G | XP_016871599.1:p.Ile4384Val | |
| XM_017016111.1:c.13138A>G | XP_016871600.1:p.Ile4380Val | |
| XM_017016112.1:c.13135A>G | XP_016871601.1:p.Ile4379Val | |
| XM_017016113.1:c.13123A>G | XP_016871602.1:p.Ile4375Val | |
| XM_017016114.1:c.13099A>G | XP_016871603.1:p.Ile4367Val | |
| XM_017016115.1:c.13072A>G | XP_016871604.1:p.Ile4358Val | |
| XM_017016116.1:c.12841A>G | XP_016871605.1:p.Ile4281Val | |
| XM_017016117.1:c.12841A>G | XP_016871606.1:p.Ile4281Val | |
| XM_017016118.1:c.11809A>G | XP_016871607.1:p.Ile3937Val | |
| XM_017016119.1:c.11500A>G | XP_016871608.1:p.Ile3834Val | |
| XM_017016120.1:c.11500A>G | XP_016871609.1:p.Ile3834Val | |
| XM_017016121.1:c.11473A>G | XP_016871610.1:p.Ile3825Val | |
| XM_017016122.1:c.7822A>G | XP_016871611.1:p.Ile2608Val | |
| XM_017016123.1:c.7606A>G | XP_016871612.1:p.Ile2536Val | |
| XM_017016124.1:c.7579A>G | XP_016871613.1:p.Ile2527Val | |
| XM_017016125.1:c.7579A>G | XP_016871614.1:p.Ile2527Val | |
| XM_017016126.1:c.7474A>G | XP_016871615.1:p.Ile2492Val | |
| XM_017016127.1:c.7447A>G | XP_016871616.1:p.Ile2483Val | |
| XM_017016128.1:c.5305A>G | XP_016871617.1:p.Ile1769Val | |
| XM_017016129.1:c.5305A>G | XP_016871618.1:p.Ile1769Val | |
| XM_017016130.1:c.5239A>G | XP_016871619.1:p.Ile1747Val | |
| XM_017016131.1:c.5224A>G | XP_016871620.1:p.Ile1742Val | |
| XM_017016132.1:c.5203A>G | XP_016871621.1:p.Ile1735Val | |
| XM_017016134.1:c.5173A>G | XP_016871623.1:p.Ile1725Val | |
| XM_017016136.1:c.5023A>G | XP_016871625.1:p.Ile1675Val | |
| XM_017016137.1:c.4996A>G | XP_016871626.1:p.Ile1666Val | |
| XM_017016138.1:c.4996A>G | XP_016871627.1:p.Ile1666Val | |
| XM_017016141.1:c.4891A>G | XP_016871630.1:p.Ile1631Val | |
| XM_024447953.1:c.13123A>G | XP_024303721.1:p.Ile4375Val | |
| XM_024447954.1:c.13096A>G | XP_024303722.1:p.Ile4366Val | |
| XM_024447955.1:c.13087A>G | XP_024303723.1:p.Ile4363Val | |
| XM_024447956.1:c.13084A>G | XP_024303724.1:p.Ile4362Val | |
| XM_024447957.1:c.13051A>G | XP_024303725.1:p.Ile4351Val | |
| XM_024447958.1:c.13033A>G | XP_024303726.1:p.Ile4345Val | |
| XM_024447959.1:c.13033A>G | XP_024303727.1:p.Ile4345Val | |
| XM_024447960.1:c.13021A>G | XP_024303728.1:p.Ile4341Val | |
| XM_024447961.1:c.13018A>G | XP_024303729.1:p.Ile4340Val | |
| XM_024447962.1:c.12049A>G | XP_024303730.1:p.Ile4017Val | |
| XM_024447963.1:c.8182A>G | XP_024303731.1:p.Ile2728Val | |
| XM_024447964.1:c.5536A>G | XP_024303732.1:p.Ile1846Val | |
| XM_024447965.1:c.5296A>G | XP_024303733.1:p.Ile1766Val | |
| NM_020987.5:c.12769A>G MANE Select | NP_066267.2:p.Ile4257Val | |
| NM_001204403.2:c.5221A>G | NP_001191332.1:p.Ile1741Val | |
| NM_001204404.2:c.5242A>G | NP_001191333.1:p.Ile1748Val | |
| NM_001320874.2:c.5239A>G | NP_001307803.1:p.Ile1747Val | |
| NM_001149.4:c.2641A>G | NP_001140.2:p.Ile881Val |