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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5973442G= , CM000669.2:g.5973442G= | GRCh38 |
| NC_000007.13:g.6013073G= , CM000669.1:g.6013073G= | GRCh37 |
| NC_000007.12:g.5979599G= | NCBI36 |
| NG_008466.1:g.40665C= , LRG_161:g.40665C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1942C= | ENSP00000514615.2:n.*1942C= | |
| ENST00000699840.2:c.2543C= | ENSP00000514638.2:p.Thr848= | |
| ENST00000699930.2:c.2438C= | ENSP00000514695.2:p.Thr813= | |
| ENST00000406569.8:c.1906C= | ENSP00000514464.1:n.1906C= | |
| ENST00000644110.2:c.*2140C= | ENSP00000496392.2:n.*2140C= | |
| ENST00000699752.1:c.2390C= | ENSP00000514561.1:p.Thr797= | |
| ENST00000699753.1:c.*1967C= | ENSP00000514562.1:n.*1967C= | |
| ENST00000699754.1:c.2348C= | ENSP00000514563.1:p.Thr783= | |
| ENST00000699755.1:c.*1945C= | ENSP00000514564.1:n.*1945C= | |
| ENST00000699756.1:c.*2133C= | ENSP00000514565.1:n.*2133C= | |
| ENST00000699757.1:c.*1803C= | ENSP00000514566.1:n.*1803C= | |
| ENST00000699758.1:c.*1803C= | ENSP00000514567.1:n.*1803C= | |
| ENST00000699759.1:n.3400C= | ||
| ENST00000699760.1:c.2228C= | ENSP00000514568.1:p.Thr743= | |
| ENST00000699761.1:c.2141C= | ENSP00000514569.1:p.Thr714= | |
| ENST00000699762.1:c.1973C= | ENSP00000514570.1:p.Thr658= | |
| ENST00000699763.1:c.*1636C= | ENSP00000514571.1:n.*1636C= | |
| ENST00000699764.1:c.*864C= | ENSP00000514572.1:n.*864C= | |
| ENST00000699765.1:c.*1541C= | ENSP00000514573.1:n.*1541C= | |
| ENST00000699766.1:c.2579C= | ENSP00000514574.1:p.Thr860= | |
| ENST00000699767.1:c.*187C= | ENSP00000514575.1:n.*187C= | |
| ENST00000699768.1:c.2402C= | ENSP00000514576.1:p.Thr801= | |
| ENST00000699811.1:c.2141C= | ENSP00000514614.1:p.Thr714= | |
| ENST00000699813.1:n.2659C= | ||
| ENST00000699814.1:c.2169C= | ||
| ENST00000699815.1:c.*2077C= | ENSP00000514616.1:n.*2077C= | |
| ENST00000699816.1:c.*1436C= | ENSP00000514617.1:n.*1436C= | |
| ENST00000699817.1:c.*2140C= | ENSP00000514618.1:n.*2140C= | |
| ENST00000699818.1:c.2141C= | ENSP00000514619.1:p.Thr714= | |
| ENST00000699819.1:c.*1703C= | ENSP00000514620.1:n.*1703C= | |
| ENST00000699820.1:c.*484C= | ENSP00000514621.1:n.*484C= | |
| ENST00000699821.1:c.2174C= | ENSP00000514622.1:p.Thr725= | |
| ENST00000699822.1:c.*1998C= | ENSP00000514623.1:n.*1998C= | |
| ENST00000699823.1:c.2141C= | ENSP00000514624.1:p.Thr714= | |
| ENST00000699824.1:c.*2049C= | ENSP00000514625.1:n.*2049C= | |
| ENST00000699825.1:c.1985C= | ENSP00000514626.1:p.Thr662= | |
| ENST00000699826.1:c.*1945C= | ENSP00000514627.1:n.*1945C= | |
| ENST00000699827.1:c.2378C= | ENSP00000514628.1:p.Thr793= | |
| ENST00000699828.1:c.*1636C= | ENSP00000514629.1:n.*1636C= | |
| ENST00000699833.1:n.4318C= | ||
| ENST00000699837.1:c.2141C= | ENSP00000514635.1:p.Thr714= | |
| ENST00000699838.1:c.*2446C= | ENSP00000514636.1:n.*2446C= | |
| ENST00000699839.1:c.2732C= | ENSP00000514637.1:p.Thr911= | |
| ENST00000699916.1:c.*1803C= | ENSP00000514684.1:n.*1803C= | |
| ENST00000699917.1:c.*1995C= | ENSP00000514685.1:n.*1995C= | |
| ENST00000699918.1:c.*2047C= | ENSP00000514686.1:n.*2047C= | |
| ENST00000699919.1:c.*2133C= | ENSP00000514687.1:n.*2133C= | |
| ENST00000699920.1:c.*2182C= | ENSP00000514688.1:n.*2182C= | |
| ENST00000699928.1:c.*484C= | ENSP00000514693.1:n.*484C= | |
| ENST00000699951.1:c.*1599C= | ENSP00000514706.1:n.*1599C= | |
| ENST00000699952.1:c.*100C= | ENSP00000514707.1:n.*100C= | |
| ENST00000265849.12:c.2546C= MANE Select | ENSP00000265849.7:p.Thr849= | |
| ENST00000642292.1:c.2141C= | ENSP00000495524.1:p.Thr714= | |
| ENST00000642456.1:c.2141C= | ENSP00000493814.1:p.Thr714= | |
| ENST00000643595.1:c.*1945C= | ENSP00000494497.1:n.*1945C= | |
| ENST00000644110.1:c.2228C= | ENSP00000496392.1:p.Thr743= | |
| ENST00000265849.11:c.2546C= | ENSP00000265849.7:p.Thr849= | |
| ENST00000382321.5:c.1343C= | ENSP00000371758.4:p.Thr448= | |
| ENST00000441476.6:c.2228C= | ENSP00000392843.2:p.Thr743= | |
| NM_000535.5:c.2546C= , LRG_161t1:c.2546C= | NP_000526.1:p.Thr849= | |
| NR_003085.2:n.2628C= | ||
| XM_006715742.2:c.2540C= | XP_006715805.1:p.Thr847= | |
| XM_006715744.2:c.1613C= | XP_006715807.1:p.Thr538= | |
| XM_011515427.1:c.2591C= | XP_011513729.1:p.Thr864= | |
| XM_011515428.1:c.2435C= | XP_011513730.1:p.Thr812= | |
| XM_011515429.1:c.2228C= | XP_011513731.1:p.Thr743= | |
| XM_011515430.1:c.2228C= | XP_011513732.1:p.Thr743= | |
| NM_000535.6:c.2546C= | NP_000526.2:p.Thr849= | |
| NM_001322003.1:c.2141C= | NP_001308932.1:p.Thr714= | |
| NM_001322004.1:c.2141C= | NP_001308933.1:p.Thr714= | |
| NM_001322005.1:c.2141C= | NP_001308934.1:p.Thr714= | |
| NM_001322006.1:c.2390C= | NP_001308935.1:p.Thr797= | |
| NM_001322007.1:c.2228C= | NP_001308936.1:p.Thr743= | |
| NM_001322008.1:c.2228C= | NP_001308937.1:p.Thr743= | |
| NM_001322009.1:c.2174C= | NP_001308938.1:p.Thr725= | |
| NM_001322010.1:c.1985C= | NP_001308939.1:p.Thr662= | |
| NM_001322011.1:c.1613C= | NP_001308940.1:p.Thr538= | |
| NM_001322012.1:c.1613C= | NP_001308941.1:p.Thr538= | |
| NM_001322013.1:c.1973C= | NP_001308942.1:p.Thr658= | |
| NM_001322014.1:c.2579C= | NP_001308943.1:p.Thr860= | |
| NM_001322015.1:c.2237C= | NP_001308944.1:p.Thr746= | |
| NR_136154.1:n.2590C= | ||
| XM_006715744.4:c.1613C= | XP_006715807.1:p.Thr538= | |
| XM_017012342.2:c.1613C= | XP_016867831.1:p.Thr538= | |
| XM_024446800.1:c.1985C= | XP_024302568.1:p.Thr662= | |
| NM_000535.7:c.2546C= MANE Select | NP_000526.2:p.Thr849= | |
| NM_001322003.2:c.2141C= | NP_001308932.1:p.Thr714= | |
| NM_001322004.2:c.2141C= | NP_001308933.1:p.Thr714= | |
| NM_001322005.2:c.2141C= | NP_001308934.1:p.Thr714= | |
| NM_001322006.2:c.2390C= | NP_001308935.1:p.Thr797= | |
| NM_001322008.2:c.2228C= | NP_001308937.1:p.Thr743= | |
| NM_001322009.2:c.2174C= | NP_001308938.1:p.Thr725= | |
| NM_001322010.2:c.1985C= | NP_001308939.1:p.Thr662= | |
| NM_001322011.2:c.1613C= | NP_001308940.1:p.Thr538= | |
| NM_001322012.2:c.1613C= | NP_001308941.1:p.Thr538= | |
| NM_001322013.2:c.1973C= | NP_001308942.1:p.Thr658= | |
| NM_001322014.2:c.2579C= | NP_001308943.1:p.Thr860= | |
| NM_001322015.2:c.2237C= | NP_001308944.1:p.Thr746= | |
| NM_001322007.2:c.2228C= | NP_001308936.1:p.Thr743= |