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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45332925G>C , CM000663.2:g.45332925G>C | GRCh38 |
| NC_000001.10:g.45798597G>C , CM000663.1:g.45798597G>C | GRCh37 |
| NC_000001.9:g.45571184G>C | NCBI36 |
| NG_008189.1:g.12546C>G , LRG_220:g.12546C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.37-91C>G | ENSP00000410263.2:n.37-91C>G | |
| ENST00000435155.2:c.446C>G | ENSP00000403655.2:p.Ser149Cys | |
| ENST00000467459.6:c.413C>G | ENSP00000435889.2:p.Ser138Cys | |
| ENST00000483127.2:c.431C>G | ENSP00000436469.2:p.Ser144Cys | |
| ENST00000485271.6:c.413C>G | ENSP00000431264.2:p.Ser138Cys | |
| ENST00000529892.6:c.455C>G | ENSP00000432528.2:p.Ser152Cys | |
| ENST00000533178.6:c.116-238C>G | ENSP00000436430.2:n.116-238C>G | |
| ENST00000672314.2:c.413C>G | ENSP00000500828.2:p.Ser138Cys | |
| ENST00000674679.2:c.*325C>G | ENSP00000501623.2:n.*325C>G | |
| ENST00000710952.2:c.497C>G MANE Plus Clinical | ENSP00000518552.2:p.Ser166Cys | |
| ENST00000672818.3:c.488C>G | ENSP00000500891.1:p.Ser163Cys | |
| ENST00000450313.6:c.423C>G | ENSP00000408176.2:p.Phe141Leu | |
| ENST00000456914.7:c.413C>G MANE Select | ENSP00000407590.2:p.Ser138Cys | |
| ENST00000461495.6:c.*152C>G | ENSP00000437166.1:n.*152C>G | |
| ENST00000671856.1:n.359C>G | ||
| ENST00000671898.1:c.1001C>G | ENSP00000499896.1:p.Ser334Cys | |
| ENST00000672011.1:c.381C>G | ENSP00000500418.1:p.Phe127Leu | |
| ENST00000672314.1:c.413C>G | ENSP00000500828.1:p.Ser138Cys | |
| ENST00000672593.1:c.*226C>G | ENSP00000500455.1:n.*226C>G | |
| ENST00000672764.1:c.372C>G | ENSP00000500886.1:p.Phe124Leu | |
| ENST00000672818.2:c.488C>G | ENSP00000500891.1:p.Ser163Cys | |
| ENST00000673134.1:c.*118-91C>G | ENSP00000500526.1:n.*118-91C>G | |
| ENST00000674679.1:c.441C>G | ENSP00000501623.1:n.441C>G | |
| ENST00000354383.10:c.416C>G | ENSP00000346354.6:p.Ser139Cys | |
| ENST00000355498.6:c.413C>G | ENSP00000347685.2:p.Ser138Cys | |
| ENST00000372098.7:c.488C>G | ENSP00000361170.3:p.Ser163Cys | |
| ENST00000372104.5:c.413C>G | ENSP00000361176.1:p.Ser138Cys | |
| ENST00000372110.7:c.458C>G | ENSP00000361182.3:p.Ser153Cys | |
| ENST00000372115.7:c.455C>G | ENSP00000361187.3:p.Ser152Cys | |
| ENST00000412971.5:c.37-91C>G | ENSP00000410263.1:n.37-91C>G | |
| ENST00000435155.1:c.446C>G | ENSP00000403655.1:p.Ser149Cys | |
| ENST00000448481.5:c.446C>G | ENSP00000409718.1:p.Ser149Cys | |
| ENST00000450313.5:c.497C>G | ENSP00000408176.1:p.Ser166Cys | |
| ENST00000456914.6:c.413C>G | ENSP00000407590.2:p.Ser138Cys | |
| ENST00000461495.5:c.*152C>G | ENSP00000437166.1:n.*152C>G | |
| ENST00000462387.5:n.735C>G | ||
| ENST00000462388.5:n.21C>G | ||
| ENST00000467940.5:c.*336C>G | ENSP00000436478.1:n.*336C>G | |
| ENST00000470256.5:c.308-91C>G | ENSP00000434985.1:n.308-91C>G | |
| ENST00000475516.5:c.*226C>G | ENSP00000433843.1:n.*226C>G | |
| ENST00000476789.5:n.770C>G | ||
| ENST00000478796.5:n.400C>G | ||
| ENST00000479746.6:n.613C>G | ||
| ENST00000481139.5:n.803C>G | ||
| ENST00000481571.5:c.*226C>G | ENSP00000436597.1:n.*226C>G | |
| ENST00000483642.5:n.845C>G | ||
| ENST00000485484.5:n.714C>G | ||
| ENST00000488731.6:c.116-91C>G | ENSP00000432330.1:n.116-91C>G | |
| ENST00000492494.5:n.727C>G | ||
| ENST00000525160.5:c.*64C>G | ENSP00000431568.1:n.*64C>G | |
| ENST00000528013.6:c.455C>G | ENSP00000433130.2:p.Ser152Cys | |
| ENST00000529984.5:c.116-91C>G | ENSP00000437093.1:n.116-91C>G | |
| ENST00000531105.5:c.115+1466C>G | ENSP00000431292.1:n.115+1466C>G | |
| ENST00000533178.5:c.122-238C>G | ENSP00000436430.1:n.122-238C>G | |
| NM_001048171.1:c.455C>G | NP_001041636.1:p.Ser152Cys | |
| NM_001048172.1:c.416C>G | NP_001041637.1:p.Ser139Cys | |
| NM_001048173.1:c.413C>G | NP_001041638.1:p.Ser138Cys | |
| NM_001048174.1:c.413C>G | NP_001041639.1:p.Ser138Cys | |
| NM_001128425.1:c.497C>G , LRG_220t1:c.497C>G | NP_001121897.1:p.Ser166Cys | |
| NM_001293190.1:c.458C>G | NP_001280119.1:p.Ser153Cys | |
| NM_001293191.1:c.446C>G | NP_001280120.1:p.Ser149Cys | |
| NM_001293192.1:c.137C>G | NP_001280121.1:p.Ser46Cys | |
| NM_001293195.1:c.413C>G | NP_001280124.1:p.Ser138Cys | |
| NM_001293196.1:c.137C>G | NP_001280125.1:p.Ser46Cys | |
| NM_012222.2:c.488C>G | NP_036354.1:p.Ser163Cys | |
| XM_011541497.1:c.473C>G | XP_011539799.1:p.Ser158Cys | |
| XM_011541498.1:c.455C>G | XP_011539800.1:p.Ser152Cys | |
| XM_011541499.1:c.455C>G | XP_011539801.1:p.Ser152Cys | |
| XM_011541500.1:c.455C>G | XP_011539802.1:p.Ser152Cys | |
| XM_011541501.1:c.455C>G | XP_011539803.1:p.Ser152Cys | |
| XM_011541502.1:c.455C>G | XP_011539804.1:p.Ser152Cys | |
| XM_011541503.1:c.463-91C>G | XP_011539805.1:n.463-91C>G | |
| XM_011541504.1:c.446C>G | XP_011539806.1:p.Ser149Cys | |
| XM_011541505.1:c.43-91C>G | XP_011539807.1:n.43-91C>G | |
| XM_011541506.1:c.43-91C>G | XP_011539808.1:n.43-91C>G | |
| XM_011541507.1:c.34-91C>G | XP_011539809.1:n.34-91C>G | |
| XM_011541508.1:c.41C>G | XP_011539810.1:p.Ser14Cys | |
| XR_946658.1:n.544C>G | ||
| NM_001350650.1:c.68C>G | NP_001337579.1:p.Ser23Cys | |
| NM_001350651.1:c.68C>G | NP_001337580.1:p.Ser23Cys | |
| NR_146882.1:n.671C>G | ||
| NR_146883.1:n.485C>G | ||
| XM_011541497.3:c.473C>G | XP_011539799.1:p.Ser158Cys | |
| XM_011541500.3:c.455C>G | XP_011539802.1:p.Ser152Cys | |
| XM_011541501.2:c.455C>G | XP_011539803.1:p.Ser152Cys | |
| XM_011541502.2:c.455C>G | XP_011539804.1:p.Ser152Cys | |
| XM_011541503.2:c.463-91C>G | XP_011539805.1:n.463-91C>G | |
| XM_011541504.2:c.446C>G | XP_011539806.1:p.Ser149Cys | |
| XM_011541505.2:c.43-91C>G | XP_011539807.1:n.43-91C>G | |
| XM_011541506.2:c.43-91C>G | XP_011539808.1:n.43-91C>G | |
| XM_017001331.1:c.455C>G | XP_016856820.1:p.Ser152Cys | |
| XM_017001332.1:c.455C>G | XP_016856821.1:p.Ser152Cys | |
| XM_017001333.1:c.455C>G | XP_016856822.1:p.Ser152Cys | |
| XM_017001334.1:c.416C>G | XP_016856823.1:p.Ser139Cys | |
| XM_017001335.1:c.137C>G | XP_016856824.1:p.Ser46Cys | |
| XM_017001336.1:c.68C>G | XP_016856825.1:p.Ser23Cys | |
| XM_017001337.1:c.68C>G | XP_016856826.1:p.Ser23Cys | |
| XM_024447244.1:c.68C>G | XP_024303012.1:p.Ser23Cys | |
| XM_024447245.1:c.68C>G | XP_024303013.1:p.Ser23Cys | |
| XM_024447248.1:c.34-91C>G | XP_024303016.1:n.34-91C>G | |
| XM_024447249.1:c.-104C>G | XP_024303017.1:n.-104C>G | |
| XM_024447250.1:c.-104C>G | XP_024303018.1:n.-104C>G | |
| XM_024447251.1:c.-187C>G | XP_024303019.1:n.-187C>G | |
| XR_001737190.1:n.458C>G | ||
| XR_001737192.1:n.278-91C>G | ||
| XR_002956643.1:n.458-91C>G | ||
| XR_002956644.1:n.902C>G | ||
| XR_946658.2:n.558C>G | ||
| NM_001048171.2:c.413C>G | NP_001041636.2:p.Ser138Cys | |
| NM_001128425.2:c.497C>G MANE Plus Clinical | NP_001121897.1:p.Ser166Cys | |
| NM_001048172.2:c.416C>G | NP_001041637.1:p.Ser139Cys | |
| NM_001048173.2:c.413C>G | NP_001041638.1:p.Ser138Cys | |
| NM_001048174.2:c.413C>G MANE Select | NP_001041639.1:p.Ser138Cys | |
| NM_001293190.2:c.458C>G | NP_001280119.1:p.Ser153Cys | |
| NM_001293191.2:c.446C>G | NP_001280120.1:p.Ser149Cys | |
| NM_001293192.2:c.137C>G | NP_001280121.1:p.Ser46Cys | |
| NM_001293195.2:c.413C>G | NP_001280124.1:p.Ser138Cys | |
| NM_001293196.2:c.137C>G | NP_001280125.1:p.Ser46Cys | |
| NM_001350650.2:c.68C>G | NP_001337579.1:p.Ser23Cys | |
| NM_001350651.2:c.68C>G | NP_001337580.1:p.Ser23Cys | |
| NM_012222.3:c.488C>G | NP_036354.1:p.Ser163Cys | |
| NR_146882.2:n.641C>G | ||
| NR_146883.2:n.490C>G |