SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131521457C= , CM000671.2:g.131521457C= | GRCh38 |
| NC_000009.11:g.134396844C= , CM000671.1:g.134396844C= | GRCh37 |
| NC_000009.10:g.133386665C= | NCBI36 |
| NG_008896.1:g.23556C= | |
| NG_008896.2:g.23556C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1648C= | ENSP00000343034.7:p.His550= | |
| ENST00000404875.7:n.2350C= | ||
| ENST00000423007.6:c.1867C= | ENSP00000404119.2:p.His623= | |
| ENST00000677295.2:c.*2154C= | ENSP00000504346.2:n.*2154C= | |
| ENST00000678264.2:c.*1993C= | ENSP00000503157.2:n.*1993C= | |
| ENST00000682070.1:n.2275C= | ||
| ENST00000682813.1:n.2214C= | ||
| ENST00000683392.1:n.4557C= | ||
| ENST00000683712.1:n.2215C= | ||
| ENST00000683900.1:n.3710C= | ||
| ENST00000684062.1:n.2476C= | ||
| ENST00000684579.1:n.3656C= | ||
| ENST00000684679.1:n.1037C= | ||
| ENST00000341012.12:c.1648C= | ENSP00000343034.7:p.His550= | |
| ENST00000372220.5:c.679C= | ENSP00000361294.5:p.His227= | |
| ENST00000372228.9:c.1876C= | ENSP00000361302.3:p.His626= | |
| ENST00000402686.8:c.1810C= MANE Select | ENSP00000385797.4:p.His604= | |
| ENST00000676640.1:c.1810C= | ENSP00000503281.1:p.His604= | |
| ENST00000676803.1:c.871C= | ENSP00000503093.1:p.His291= | |
| ENST00000676835.1:c.*1025C= | ENSP00000502911.1:n.*1025C= | |
| ENST00000677029.1:c.1354C= | ENSP00000502936.1:p.His452= | |
| ENST00000677099.1:c.*1520C= | ENSP00000504553.1:n.*1520C= | |
| ENST00000677216.1:c.1459C= | ENSP00000503772.1:p.His487= | |
| ENST00000677221.1:n.835C= | ||
| ENST00000677295.1:c.*1187C= | ENSP00000504346.1:n.*1187C= | |
| ENST00000677444.1:c.1755C= | ||
| ENST00000677586.1:n.1177C= | ||
| ENST00000677626.1:c.1459C= | ENSP00000503552.1:p.His487= | |
| ENST00000677853.1:c.*818C= | ENSP00000503488.1:n.*818C= | |
| ENST00000678202.1:n.969C= | ||
| ENST00000678264.1:c.*1187C= | ENSP00000503157.1:n.*1187C= | |
| ENST00000678303.1:c.1720C= | ENSP00000503696.1:p.His574= | |
| ENST00000678366.1:c.*2059C= | ENSP00000504353.1:n.*2059C= | |
| ENST00000678546.1:c.*1755C= | ENSP00000503062.1:n.*1755C= | |
| ENST00000678548.1:c.*1882C= | ENSP00000503934.1:n.*1882C= | |
| ENST00000678626.1:n.1646C= | ||
| ENST00000678739.1:c.*2131C= | ENSP00000503806.1:n.*2131C= | |
| ENST00000678833.1:c.*1562C= | ENSP00000503893.1:n.*1562C= | |
| ENST00000679023.1:c.1648C= | ENSP00000503718.1:p.His550= | |
| ENST00000679076.1:c.1429C= | ||
| ENST00000679111.1:c.*566C= | ENSP00000504257.1:n.*566C= | |
| ENST00000679189.1:c.1459C= | ENSP00000503356.1:p.His487= | |
| ENST00000341012.11:c.1648C= | ENSP00000343034.7:p.His550= | |
| ENST00000372220.4:c.673C= | ENSP00000361294.4:p.His225= | |
| ENST00000372228.7:c.1876C= | ENSP00000361302.3:p.His626= | |
| ENST00000402686.7:c.1810C= | ENSP00000385797.3:p.His604= | |
| ENST00000404875.6:c.1459C= | ENSP00000384531.2:p.His487= | |
| ENST00000423007.5:c.1810C= | ENSP00000404119.1:p.His604= | |
| ENST00000485278.5:n.2360C= | ||
| ENST00000494883.1:n.353C= | ||
| NM_001077365.1:c.1810C= | NP_001070833.1:p.His604= | |
| NM_001077366.1:c.1648C= | NP_001070834.1:p.His550= | |
| NM_001136113.1:c.1810C= | NP_001129585.1:p.His604= | |
| NM_001136114.1:c.1459C= | NP_001129586.1:p.His487= | |
| NM_007171.3:c.1876C= | NP_009102.3:p.His626= | |
| XM_005272156.1:c.1876C= | XP_005272213.1:p.His626= | |
| XM_005272158.1:c.1714C= | XP_005272215.1:p.His572= | |
| XM_005272159.1:c.1525C= | XP_005272216.1:p.His509= | |
| XM_005272162.1:c.679C= | XP_005272219.1:p.His227= | |
| XM_006716932.1:c.1525C= | XP_006716995.1:p.His509= | |
| XM_011518140.1:c.1729C= | XP_011516442.1:p.His577= | |
| XM_011518141.1:c.1663C= | XP_011516443.1:p.His555= | |
| XM_011518142.1:c.1567C= | XP_011516444.1:p.His523= | |
| XM_011518143.1:c.1561C= | XP_011516445.1:p.His521= | |
| XM_011518145.1:c.1420C= | XP_011516447.1:p.His474= | |
| XM_011518147.1:c.748C= | XP_011516449.1:p.His250= | |
| XR_929703.1:n.2052C= | ||
| NM_001353193.1:c.1876C= | NP_001340122.1:p.His626= | |
| NM_001353194.1:c.1648C= | NP_001340123.1:p.His550= | |
| NM_001353195.1:c.1459C= | NP_001340124.1:p.His487= | |
| NM_001353196.1:c.1720C= | NP_001340125.1:p.His574= | |
| NM_001353197.1:c.1714C= | NP_001340126.1:p.His572= | |
| NM_001353198.1:c.1714C= | NP_001340127.1:p.His572= | |
| NM_001353199.1:c.1525C= | NP_001340128.1:p.His509= | |
| NM_001353200.1:c.1354C= | NP_001340129.1:p.His452= | |
| NR_148391.1:n.1860C= | ||
| NR_148392.1:n.2078C= | ||
| NR_148393.1:n.1999C= | ||
| NR_148394.1:n.1753C= | ||
| NR_148395.1:n.2151C= | ||
| NR_148396.1:n.1785C= | ||
| NR_148397.1:n.1910C= | ||
| NR_148398.1:n.1865C= | ||
| NR_148399.1:n.2391C= | ||
| NR_148400.1:n.1990C= | ||
| XM_005272162.3:c.679C= | XP_005272219.1:p.His227= | |
| XM_006716932.2:c.1525C= | XP_006716995.1:p.His509= | |
| XM_011518140.2:c.1729C= | XP_011516442.1:p.His577= | |
| XM_011518141.2:c.1663C= | XP_011516443.1:p.His555= | |
| XM_011518142.2:c.1567C= | XP_011516444.1:p.His523= | |
| XM_011518143.2:c.1561C= | XP_011516445.1:p.His521= | |
| XM_011518145.2:c.1420C= | XP_011516447.1:p.His474= | |
| XM_017014205.2:c.679C= | XP_016869694.1:p.His227= | |
| XM_024447380.1:c.679C= | XP_024303148.1:p.His227= | |
| XM_024447381.1:c.985C= | XP_024303149.1:p.His329= | |
| XM_024447382.1:c.679C= | XP_024303150.1:p.His227= | |
| XR_001746160.2:n.1980C= | ||
| XR_001746162.2:n.2185C= | ||
| XR_001746164.1:n.1902C= | ||
| XR_001746166.2:n.2197C= | ||
| NM_001077365.2:c.1810C= MANE Select | NP_001070833.1:p.His604= | |
| NM_001077366.2:c.1648C= | NP_001070834.1:p.His550= | |
| NM_001136113.2:c.1810C= | NP_001129585.1:p.His604= | |
| NM_001136114.2:c.1459C= | NP_001129586.1:p.His487= | |
| NM_001353193.2:c.1876C= | NP_001340122.2:p.His626= | |
| NM_001353194.2:c.1648C= | NP_001340123.1:p.His550= | |
| NM_001353195.2:c.1459C= | NP_001340124.1:p.His487= | |
| NM_001353196.2:c.1720C= | NP_001340125.1:p.His574= | |
| NM_001353197.2:c.1714C= | NP_001340126.2:p.His572= | |
| NM_001353198.2:c.1714C= | NP_001340127.2:p.His572= | |
| NM_001353199.2:c.1525C= | NP_001340128.2:p.His509= | |
| NM_001353200.2:c.1354C= | NP_001340129.1:p.His452= | |
| NM_001374689.1:c.1798C= | NP_001361618.1:p.His600= | |
| NM_001374690.1:c.1591C= | NP_001361619.1:p.His531= | |
| NM_001374691.1:c.1459C= | NP_001361620.1:p.His487= | |
| NM_001374692.1:c.1459C= | NP_001361621.1:p.His487= | |
| NM_001374693.1:c.1459C= | NP_001361622.1:p.His487= | |
| NM_001374695.1:c.1420C= | NP_001361624.1:p.His474= | |
| NM_007171.4:c.1876C= | NP_009102.4:p.His626= | |
| NR_148391.2:n.1844C= | ||
| NR_148392.2:n.2062C= | ||
| NR_148393.2:n.1983C= | ||
| NR_148394.2:n.1737C= | ||
| NR_148395.2:n.2135C= | ||
| NR_148396.2:n.1769C= | ||
| NR_148397.2:n.1894C= | ||
| NR_148398.2:n.1849C= | ||
| NR_148399.2:n.2375C= | ||
| NR_148400.2:n.1974C= |