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
MyVariant Identifiers:
chr3:g.12632449C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12590950C>T , CM000665.2:g.12590950C>T | GRCh38 |
| NC_000003.11:g.12632449C>T , CM000665.1:g.12632449C>T | GRCh37 |
| NC_000003.10:g.12607449C>T | NCBI36 |
| NG_007467.1:g.78230G>A , LRG_413:g.78230G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000423275.6:c.*883G>A | ENSP00000401088.1:n.*883G>A | |
| ENST00000432427.3:c.535G>A | ||
| ENST00000460610.2:n.12G>A | ||
| ENST00000465826.6:n.809G>A | ||
| ENST00000475353.2:n.1140G>A | ||
| ENST00000494557.2:n.1029G>A | ||
| ENST00000684903.1:c.*895G>A | ENSP00000508612.1:n.*895G>A | |
| ENST00000685348.1:c.*895G>A | ENSP00000510285.1:n.*895G>A | |
| ENST00000685437.1:c.1119G>A | ENSP00000508794.1:p.Leu373= | |
| ENST00000685653.1:c.1218G>A | ENSP00000509968.1:p.Leu406= | |
| ENST00000685738.1:c.*182G>A | ENSP00000510156.1:n.*182G>A | |
| ENST00000686409.1:n.2269G>A | ||
| ENST00000686455.1:n.1581G>A | ||
| ENST00000686762.1:c.1218G>A | ENSP00000509767.1:p.Leu406= | |
| ENST00000687257.1:n.1454G>A | ||
| ENST00000687326.1:c.*152G>A | ENSP00000509665.1:n.*152G>A | |
| ENST00000687505.1:n.1336G>A | ||
| ENST00000687923.1:c.1107G>A | ENSP00000510255.1:p.Leu369= | |
| ENST00000687940.1:n.1595G>A | ||
| ENST00000688269.1:n.1814G>A | ||
| ENST00000688326.1:c.651G>A | ||
| ENST00000688444.1:n.1544G>A | ||
| ENST00000688543.1:c.1119G>A | ENSP00000509612.1:p.Leu373= | |
| ENST00000688625.1:c.*796G>A | ENSP00000509522.1:n.*796G>A | |
| ENST00000688803.1:n.1449G>A | ||
| ENST00000688914.1:n.204G>A | ||
| ENST00000689097.1:c.*895G>A | ENSP00000509756.1:n.*895G>A | |
| ENST00000689389.1:c.1193+758G>A | ENSP00000510213.1:n.1193+758G>A | |
| ENST00000689418.1:c.*895G>A | ENSP00000509467.1:n.*895G>A | |
| ENST00000689481.1:c.*895G>A | ENSP00000510248.1:n.*895G>A | |
| ENST00000689540.1:n.1368G>A | ||
| ENST00000689876.1:c.1218G>A | ENSP00000508535.1:p.Leu406= | |
| ENST00000689914.1:c.*152G>A | ENSP00000509847.1:n.*152G>A | |
| ENST00000690397.1:c.1107G>A | ENSP00000508730.1:p.Leu369= | |
| ENST00000690460.1:c.1206G>A | ENSP00000509106.1:p.Leu402= | |
| ENST00000690585.1:c.110G>A | ||
| ENST00000690625.1:n.2254G>A | ||
| ENST00000691396.1:c.*1070G>A | ENSP00000510712.1:n.*1070G>A | |
| ENST00000691724.1:c.*175G>A | ENSP00000509255.1:n.*175G>A | |
| ENST00000691779.1:c.*796G>A | ENSP00000508592.1:n.*796G>A | |
| ENST00000691888.1:c.110G>A | ||
| ENST00000691899.1:c.1218G>A | ENSP00000508763.1:p.Leu406= | |
| ENST00000692069.1:n.1784G>A | ||
| ENST00000692093.1:c.1119G>A | ENSP00000509669.1:p.Leu373= | |
| ENST00000692311.1:n.2042G>A | ||
| ENST00000692558.1:n.1583G>A | ||
| ENST00000692773.1:c.*955G>A | ENSP00000509055.1:n.*955G>A | |
| ENST00000692830.1:c.*963G>A | ENSP00000509461.1:n.*963G>A | |
| ENST00000693069.1:c.*152G>A | ENSP00000510072.1:n.*152G>A | |
| ENST00000693312.1:c.993G>A | ENSP00000508686.1:p.Leu331= | |
| ENST00000693664.1:c.1218G>A | ENSP00000509614.1:p.Leu406= | |
| ENST00000693705.1:c.*895G>A | ENSP00000510697.1:n.*895G>A | |
| ENST00000251849.9:c.1218G>A MANE Select | ENSP00000251849.4:p.Leu406= | |
| ENST00000442415.7:c.1278G>A | ENSP00000401888.2:p.Leu426= | |
| ENST00000251849.8:c.1218G>A | ENSP00000251849.4:p.Leu406= | |
| ENST00000423275.5:c.*895G>A | ENSP00000401088.1:n.*895G>A | |
| ENST00000432427.2:c.855G>A | ENSP00000398591.2:p.Leu285= | |
| ENST00000442415.6:c.1278G>A | ENSP00000401888.2:p.Leu426= | |
| ENST00000460610.1:n.175G>A | ||
| ENST00000465826.5:n.575G>A | ||
| ENST00000475353.1:n.386G>A | ||
| ENST00000494557.1:n.234G>A | ||
| NM_002880.3:c.1218G>A , LRG_413t1:c.1218G>A | NP_002871.1:p.Leu406= | |
| XM_005265355.1:c.1218G>A | XP_005265412.1:p.Leu406= | |
| XM_005265357.1:c.1119G>A | XP_005265414.1:p.Leu373= | |
| XM_005265358.3:c.975G>A | XP_005265415.1:p.Leu325= | |
| XM_005265359.3:c.876G>A | XP_005265416.1:p.Leu292= | |
| XM_005265360.1:c.1218G>A | XP_005265417.1:p.Leu406= | |
| XM_011533974.1:c.1218G>A | XP_011532276.1:p.Leu406= | |
| XM_011533975.1:c.975G>A | XP_011532277.1:p.Leu325= | |
| NM_001354689.1:c.1278G>A | NP_001341618.1:p.Leu426= | |
| NM_001354690.1:c.1218G>A | NP_001341619.1:p.Leu406= | |
| NM_001354691.1:c.975G>A | NP_001341620.1:p.Leu325= | |
| NM_001354692.1:c.975G>A | NP_001341621.1:p.Leu325= | |
| NM_001354693.1:c.1119G>A | NP_001341622.1:p.Leu373= | |
| NM_001354694.1:c.1035G>A | NP_001341623.1:p.Leu345= | |
| NM_001354695.1:c.876G>A | NP_001341624.1:p.Leu292= | |
| NR_148940.1:n.1746G>A | ||
| NR_148941.1:n.1692G>A | ||
| NR_148942.1:n.1631G>A | ||
| XM_011533974.3:c.1218G>A | XP_011532276.1:p.Leu406= | |
| XM_017006966.1:c.1119G>A | XP_016862455.1:p.Leu373= | |
| XR_001740227.1:n.1509G>A | ||
| NM_001354689.3:c.1278G>A | NP_001341618.1:p.Leu426= | |
| NM_001354690.2:c.1218G>A | NP_001341619.1:p.Leu406= | |
| NM_001354691.2:c.975G>A | NP_001341620.1:p.Leu325= | |
| NM_001354692.2:c.975G>A | NP_001341621.1:p.Leu325= | |
| NM_001354693.2:c.1119G>A | NP_001341622.1:p.Leu373= | |
| NM_001354694.2:c.1035G>A | NP_001341623.1:p.Leu345= | |
| NM_001354695.2:c.876G>A | NP_001341624.1:p.Leu292= | |
| NR_148940.2:n.1662G>A | ||
| NR_148941.2:n.1608G>A | ||
| NR_148942.2:n.1547G>A | ||
| NM_001354690.3:c.1218G>A | NP_001341619.1:p.Leu406= | |
| NM_001354691.3:c.975G>A | NP_001341620.1:p.Leu325= | |
| NM_001354692.3:c.975G>A | NP_001341621.1:p.Leu325= | |
| NM_001354693.3:c.1119G>A | NP_001341622.1:p.Leu373= | |
| NM_001354694.3:c.1035G>A | NP_001341623.1:p.Leu345= | |
| NM_001354695.3:c.876G>A | NP_001341624.1:p.Leu292= | |
| NM_002880.4:c.1218G>A MANE Select | NP_002871.1:p.Leu406= | |
| NR_148940.3:n.1662G>A | ||
| NR_148941.3:n.1608G>A | ||
| NR_148942.3:n.1547G>A |