Linked Data
dbSNP Id:
rs766093403
ExAC:
7:29438094 G / C
gnomAD v2:
7-29438094-G-C
gnomAD v4:
7-29398478-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398478G>C , CM000669.2:g.29398478G>C | GRCh38 |
| NC_000007.13:g.29438094G>C , CM000669.1:g.29438094G>C | GRCh37 |
| NC_000007.12:g.29404619G>C | NCBI36 |
| NG_029365.2:g.256932G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.321G>C | ENSP00000386968.2:p.Leu107= | |
| ENST00000439384.6:n.544G>C | ||
| ENST00000446446.6:c.282G>C | ENSP00000396867.2:p.Leu94= | |
| ENST00000706158.1:c.*226G>C | ENSP00000516236.1:n.*226G>C | |
| ENST00000706159.1:c.194G>C | ENSP00000516237.1:p.Trp65Ser | |
| ENST00000706160.1:c.282G>C | ENSP00000516238.1:p.Leu94= | |
| ENST00000706161.1:c.360G>C | ENSP00000516239.1:p.Leu120= | |
| ENST00000706162.1:c.282G>C | ENSP00000516240.1:p.Leu94= | |
| ENST00000706163.1:c.50-81801G>C | ENSP00000516241.1:n.50-81801G>C | |
| ENST00000222792.11:c.282G>C MANE Select | ENSP00000222792.7:p.Leu94= | |
| ENST00000644824.1:c.507G>C | ENSP00000495614.1:p.Leu169= | |
| ENST00000222792.10:c.282G>C | ENSP00000222792.6:p.Leu94= | |
| ENST00000409350.5:c.321G>C | ENSP00000386968.1:p.Leu107= | |
| ENST00000409922.5:n.493G>C | ||
| ENST00000409964.6:n.481G>C | ||
| ENST00000412536.5:n.302G>C | ||
| ENST00000435288.6:c.168+4776G>C | ENSP00000400282.3:n.168+4776G>C | |
| ENST00000439384.5:c.507G>C | ENSP00000409843.1:p.Leu169= | |
| ENST00000474070.5:c.382G>C | ||
| ENST00000478128.6:n.376G>C | ||
| ENST00000482820.6:n.491G>C | ||
| ENST00000491856.1:n.1831G>C | ||
| ENST00000495789.6:c.282G>C | ENSP00000438587.2:p.Leu94= | |
| ENST00000539389.5:c.282G>C | ENSP00000440526.2:p.Leu94= | |
| ENST00000539406.5:c.282G>C | ENSP00000444063.2:p.Leu94= | |
| NM_001293069.1:c.507G>C | NP_001279998.1:p.Leu169= | |
| NM_001293070.1:c.321G>C | NP_001279999.1:p.Leu107= | |
| NM_001293071.1:c.177G>C | NP_001280000.1:p.Leu59= | |
| NM_001293072.1:c.237G>C | NP_001280001.1:p.Leu79= | |
| NM_004067.3:c.282G>C | NP_004058.1:p.Leu94= | |
| XM_011515105.1:c.585G>C | XP_011513407.1:p.Leu195= | |
| XM_011515106.1:c.546G>C | XP_011513408.1:p.Leu182= | |
| XM_011515107.1:c.360G>C | XP_011513409.1:p.Leu120= | |
| XM_011515108.1:c.282G>C | XP_011513410.1:p.Leu94= | |
| XM_011515109.1:c.243G>C | XP_011513411.1:p.Leu81= | |
| XM_011515110.1:c.204G>C | XP_011513412.1:p.Leu68= | |
| XM_011515111.1:c.177G>C | XP_011513413.1:p.Leu59= | |
| XM_011515112.1:c.585G>C | XP_011513414.1:p.Leu195= | |
| XM_011515105.2:c.585G>C | XP_011513407.1:p.Leu195= | |
| XM_011515106.2:c.546G>C | XP_011513408.1:p.Leu182= | |
| XM_011515107.2:c.360G>C | XP_011513409.1:p.Leu120= | |
| XM_017011721.1:c.603G>C | XP_016867210.1:p.Leu201= | |
| XM_017011722.1:c.378G>C | XP_016867211.1:p.Leu126= | |
| NM_004067.4:c.282G>C MANE Select | NP_004058.1:p.Leu94= | |
| NM_001293070.2:c.321G>C | NP_001279999.1:p.Leu107= | |
| NM_001293071.2:c.177G>C | NP_001280000.1:p.Leu59= | |
| NM_001293072.2:c.237G>C | NP_001280001.1:p.Leu79= | |
| NM_001398427.1:c.-157G>C | NP_001385356.1:n.-157G>C |