Linked Data
dbSNP Id:
rs554913073
ExAC:
7:29438091 G / A
gnomAD v2:
7-29438091-G-A
gnomAD v3:
7-29398475-G-A
gnomAD v4:
7-29398475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398475G>A , CM000669.2:g.29398475G>A | GRCh38 |
| NC_000007.13:g.29438091G>A , CM000669.1:g.29438091G>A | GRCh37 |
| NC_000007.12:g.29404616G>A | NCBI36 |
| NG_029365.2:g.256929G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.318G>A | ENSP00000386968.2:p.Thr106= | |
| ENST00000439384.6:n.541G>A | ||
| ENST00000446446.6:c.279G>A | ENSP00000396867.2:p.Thr93= | |
| ENST00000706158.1:c.*223G>A | ENSP00000516236.1:n.*223G>A | |
| ENST00000706159.1:c.191G>A | ENSP00000516237.1:p.Arg64His | |
| ENST00000706160.1:c.279G>A | ENSP00000516238.1:p.Thr93= | |
| ENST00000706161.1:c.357G>A | ENSP00000516239.1:p.Thr119= | |
| ENST00000706162.1:c.279G>A | ENSP00000516240.1:p.Thr93= | |
| ENST00000706163.1:c.50-81804G>A | ENSP00000516241.1:n.50-81804G>A | |
| ENST00000222792.11:c.279G>A MANE Select | ENSP00000222792.7:p.Thr93= | |
| ENST00000644824.1:c.504G>A | ENSP00000495614.1:p.Thr168= | |
| ENST00000222792.10:c.279G>A | ENSP00000222792.6:p.Thr93= | |
| ENST00000409350.5:c.318G>A | ENSP00000386968.1:p.Thr106= | |
| ENST00000409922.5:n.490G>A | ||
| ENST00000409964.6:n.478G>A | ||
| ENST00000412536.5:n.299G>A | ||
| ENST00000435288.6:c.168+4773G>A | ENSP00000400282.3:n.168+4773G>A | |
| ENST00000439384.5:c.504G>A | ENSP00000409843.1:p.Thr168= | |
| ENST00000474070.5:c.379G>A | ||
| ENST00000478128.6:n.373G>A | ||
| ENST00000482820.6:n.488G>A | ||
| ENST00000491856.1:n.1828G>A | ||
| ENST00000495789.6:c.279G>A | ENSP00000438587.2:p.Thr93= | |
| ENST00000539389.5:c.279G>A | ENSP00000440526.2:p.Thr93= | |
| ENST00000539406.5:c.279G>A | ENSP00000444063.2:p.Thr93= | |
| NM_001293069.1:c.504G>A | NP_001279998.1:p.Thr168= | |
| NM_001293070.1:c.318G>A | NP_001279999.1:p.Thr106= | |
| NM_001293071.1:c.174G>A | NP_001280000.1:p.Thr58= | |
| NM_001293072.1:c.234G>A | NP_001280001.1:p.Thr78= | |
| NM_004067.3:c.279G>A | NP_004058.1:p.Thr93= | |
| XM_011515105.1:c.582G>A | XP_011513407.1:p.Thr194= | |
| XM_011515106.1:c.543G>A | XP_011513408.1:p.Thr181= | |
| XM_011515107.1:c.357G>A | XP_011513409.1:p.Thr119= | |
| XM_011515108.1:c.279G>A | XP_011513410.1:p.Thr93= | |
| XM_011515109.1:c.240G>A | XP_011513411.1:p.Thr80= | |
| XM_011515110.1:c.201G>A | XP_011513412.1:p.Thr67= | |
| XM_011515111.1:c.174G>A | XP_011513413.1:p.Thr58= | |
| XM_011515112.1:c.582G>A | XP_011513414.1:p.Thr194= | |
| XM_011515105.2:c.582G>A | XP_011513407.1:p.Thr194= | |
| XM_011515106.2:c.543G>A | XP_011513408.1:p.Thr181= | |
| XM_011515107.2:c.357G>A | XP_011513409.1:p.Thr119= | |
| XM_017011721.1:c.600G>A | XP_016867210.1:p.Thr200= | |
| XM_017011722.1:c.375G>A | XP_016867211.1:p.Thr125= | |
| NM_004067.4:c.279G>A MANE Select | NP_004058.1:p.Thr93= | |
| NM_001293070.2:c.318G>A | NP_001279999.1:p.Thr106= | |
| NM_001293071.2:c.174G>A | NP_001280000.1:p.Thr58= | |
| NM_001293072.2:c.234G>A | NP_001280001.1:p.Thr78= | |
| NM_001398427.1:c.-160G>A | NP_001385356.1:n.-160G>A |