SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs1479512587
gnomAD v2:
9-134398400-C-G
gnomAD v3:
9-131523013-C-G
gnomAD v4:
9-131523013-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131523013C>G , CM000671.2:g.131523013C>G | GRCh38 |
| NC_000009.11:g.134398400C>G , CM000671.1:g.134398400C>G | GRCh37 |
| NC_000009.10:g.133388221C>G | NCBI36 |
| NG_008896.1:g.25112C>G | |
| NG_008896.2:g.25112C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1923C>G | ENSP00000343034.7:p.Arg641= | |
| ENST00000404875.7:n.2625C>G | ||
| ENST00000423007.6:c.2142C>G | ENSP00000404119.2:p.Arg714= | |
| ENST00000677295.2:c.*2429C>G | ENSP00000504346.2:n.*2429C>G | |
| ENST00000678264.2:c.*2268C>G | ENSP00000503157.2:n.*2268C>G | |
| ENST00000682070.1:n.2395C>G | ||
| ENST00000682639.1:c.82C>G | ||
| ENST00000682813.1:n.2482C>G | ||
| ENST00000683231.1:c.82C>G | ||
| ENST00000683392.1:n.4677C>G | ||
| ENST00000683712.1:n.2490C>G | ||
| ENST00000683900.1:n.3985C>G | ||
| ENST00000684062.1:n.2751C>G | ||
| ENST00000684399.1:c.82C>G | ||
| ENST00000684579.1:n.3931C>G | ||
| ENST00000341012.12:c.1923C>G | ENSP00000343034.7:p.Arg641= | |
| ENST00000372220.5:c.954C>G | ENSP00000361294.5:p.Arg318= | |
| ENST00000372228.9:c.2151C>G | ENSP00000361302.3:p.Arg717= | |
| ENST00000402686.8:c.2085C>G MANE Select | ENSP00000385797.4:p.Arg695= | |
| ENST00000676640.1:c.2085C>G | ENSP00000503281.1:p.Arg695= | |
| ENST00000676803.1:c.1146C>G | ENSP00000503093.1:p.Arg382= | |
| ENST00000676835.1:c.*1300C>G | ENSP00000502911.1:n.*1300C>G | |
| ENST00000677029.1:c.1629C>G | ENSP00000502936.1:p.Arg543= | |
| ENST00000677099.1:c.*1795C>G | ENSP00000504553.1:n.*1795C>G | |
| ENST00000677216.1:c.1734C>G | ENSP00000503772.1:p.Arg578= | |
| ENST00000677221.1:n.1110C>G | ||
| ENST00000677295.1:c.*1307C>G | ENSP00000504346.1:n.*1307C>G | |
| ENST00000677444.1:c.2030C>G | ||
| ENST00000677586.1:n.1452C>G | ||
| ENST00000677626.1:c.1734C>G | ENSP00000503552.1:p.Arg578= | |
| ENST00000677853.1:c.*1093C>G | ENSP00000503488.1:n.*1093C>G | |
| ENST00000678264.1:c.*1462C>G | ENSP00000503157.1:n.*1462C>G | |
| ENST00000678303.1:c.1995C>G | ENSP00000503696.1:p.Arg665= | |
| ENST00000678366.1:c.*2334C>G | ENSP00000504353.1:n.*2334C>G | |
| ENST00000678546.1:c.*2030C>G | ENSP00000503062.1:n.*2030C>G | |
| ENST00000678548.1:c.*2224C>G | ENSP00000503934.1:n.*2224C>G | |
| ENST00000678626.1:n.1921C>G | ||
| ENST00000678739.1:c.*2251C>G | ENSP00000503806.1:n.*2251C>G | |
| ENST00000678833.1:c.*1837C>G | ENSP00000503893.1:n.*1837C>G | |
| ENST00000679023.1:c.1923C>G | ENSP00000503718.1:p.Arg641= | |
| ENST00000679076.1:c.1704C>G | ||
| ENST00000679111.1:c.*841C>G | ENSP00000504257.1:n.*841C>G | |
| ENST00000679189.1:c.1734C>G | ENSP00000503356.1:p.Arg578= | |
| ENST00000341012.11:c.1923C>G | ENSP00000343034.7:p.Arg641= | |
| ENST00000372220.4:c.948C>G | ENSP00000361294.4:p.Arg316= | |
| ENST00000372228.7:c.2151C>G | ENSP00000361302.3:p.Arg717= | |
| ENST00000402686.7:c.2085C>G | ENSP00000385797.3:p.Arg695= | |
| ENST00000404875.6:c.1734C>G | ENSP00000384531.2:p.Arg578= | |
| ENST00000423007.5:c.2085C>G | ENSP00000404119.1:p.Arg695= | |
| ENST00000485278.5:n.2635C>G | ||
| NM_001077365.1:c.2085C>G | NP_001070833.1:p.Arg695= | |
| NM_001077366.1:c.1923C>G | NP_001070834.1:p.Arg641= | |
| NM_001136113.1:c.2085C>G | NP_001129585.1:p.Arg695= | |
| NM_001136114.1:c.1734C>G | NP_001129586.1:p.Arg578= | |
| NM_007171.3:c.2151C>G | NP_009102.3:p.Arg717= | |
| XM_005272156.1:c.2151C>G | XP_005272213.1:p.Arg717= | |
| XM_005272158.1:c.1989C>G | XP_005272215.1:p.Arg663= | |
| XM_005272159.1:c.1800C>G | XP_005272216.1:p.Arg600= | |
| XM_005272162.1:c.954C>G | XP_005272219.1:p.Arg318= | |
| XM_006716932.1:c.1800C>G | XP_006716995.1:p.Arg600= | |
| XM_011518140.1:c.2004C>G | XP_011516442.1:p.Arg668= | |
| XM_011518141.1:c.1938C>G | XP_011516443.1:p.Arg646= | |
| XM_011518142.1:c.1842C>G | XP_011516444.1:p.Arg614= | |
| XM_011518143.1:c.1836C>G | XP_011516445.1:p.Arg612= | |
| XM_011518145.1:c.1695C>G | XP_011516447.1:p.Arg565= | |
| XM_011518147.1:c.1023C>G | XP_011516449.1:p.Arg341= | |
| XR_929703.1:n.2327C>G | ||
| NM_001353193.1:c.2151C>G | NP_001340122.1:p.Arg717= | |
| NM_001353194.1:c.1923C>G | NP_001340123.1:p.Arg641= | |
| NM_001353195.1:c.1734C>G | NP_001340124.1:p.Arg578= | |
| NM_001353196.1:c.1995C>G | NP_001340125.1:p.Arg665= | |
| NM_001353197.1:c.1989C>G | NP_001340126.1:p.Arg663= | |
| NM_001353198.1:c.1989C>G | NP_001340127.1:p.Arg663= | |
| NM_001353199.1:c.1800C>G | NP_001340128.1:p.Arg600= | |
| NM_001353200.1:c.1629C>G | NP_001340129.1:p.Arg543= | |
| NR_148391.1:n.2135C>G | ||
| NR_148392.1:n.2353C>G | ||
| NR_148393.1:n.2274C>G | ||
| NR_148394.1:n.2028C>G | ||
| NR_148395.1:n.2426C>G | ||
| NR_148396.1:n.2060C>G | ||
| NR_148397.1:n.2185C>G | ||
| NR_148398.1:n.2140C>G | ||
| NR_148399.1:n.2666C>G | ||
| NR_148400.1:n.2265C>G | ||
| XM_005272162.3:c.954C>G | XP_005272219.1:p.Arg318= | |
| XM_006716932.2:c.1800C>G | XP_006716995.1:p.Arg600= | |
| XM_011518140.2:c.2004C>G | XP_011516442.1:p.Arg668= | |
| XM_011518141.2:c.1938C>G | XP_011516443.1:p.Arg646= | |
| XM_011518142.2:c.1842C>G | XP_011516444.1:p.Arg614= | |
| XM_011518143.2:c.1836C>G | XP_011516445.1:p.Arg612= | |
| XM_011518145.2:c.1695C>G | XP_011516447.1:p.Arg565= | |
| XM_017014205.2:c.954C>G | XP_016869694.1:p.Arg318= | |
| XM_024447380.1:c.954C>G | XP_024303148.1:p.Arg318= | |
| XM_024447381.1:c.1260C>G | XP_024303149.1:p.Arg420= | |
| XM_024447382.1:c.954C>G | XP_024303150.1:p.Arg318= | |
| XR_001746160.2:n.2255C>G | ||
| XR_001746162.2:n.2460C>G | ||
| XR_001746164.1:n.2177C>G | ||
| XR_001746166.2:n.2472C>G | ||
| NM_001077365.2:c.2085C>G MANE Select | NP_001070833.1:p.Arg695= | |
| NM_001077366.2:c.1923C>G | NP_001070834.1:p.Arg641= | |
| NM_001136113.2:c.2085C>G | NP_001129585.1:p.Arg695= | |
| NM_001136114.2:c.1734C>G | NP_001129586.1:p.Arg578= | |
| NM_001353193.2:c.2151C>G | NP_001340122.2:p.Arg717= | |
| NM_001353194.2:c.1923C>G | NP_001340123.1:p.Arg641= | |
| NM_001353195.2:c.1734C>G | NP_001340124.1:p.Arg578= | |
| NM_001353196.2:c.1995C>G | NP_001340125.1:p.Arg665= | |
| NM_001353197.2:c.1989C>G | NP_001340126.2:p.Arg663= | |
| NM_001353198.2:c.1989C>G | NP_001340127.2:p.Arg663= | |
| NM_001353199.2:c.1800C>G | NP_001340128.2:p.Arg600= | |
| NM_001353200.2:c.1629C>G | NP_001340129.1:p.Arg543= | |
| NM_001374689.1:c.2073C>G | NP_001361618.1:p.Arg691= | |
| NM_001374690.1:c.1866C>G | NP_001361619.1:p.Arg622= | |
| NM_001374691.1:c.1734C>G | NP_001361620.1:p.Arg578= | |
| NM_001374692.1:c.1734C>G | NP_001361621.1:p.Arg578= | |
| NM_001374693.1:c.1734C>G | NP_001361622.1:p.Arg578= | |
| NM_001374695.1:c.1695C>G | NP_001361624.1:p.Arg565= | |
| NM_007171.4:c.2151C>G | NP_009102.4:p.Arg717= | |
| NR_148391.2:n.2119C>G | ||
| NR_148392.2:n.2337C>G | ||
| NR_148393.2:n.2258C>G | ||
| NR_148394.2:n.2012C>G | ||
| NR_148395.2:n.2410C>G | ||
| NR_148396.2:n.2044C>G | ||
| NR_148397.2:n.2169C>G | ||
| NR_148398.2:n.2124C>G | ||
| NR_148399.2:n.2650C>G | ||
| NR_148400.2:n.2249C>G |