Linked Data
dbSNP Id:
rs1801936501
gnomAD v4:
7-29398391-T-C
MyVariant Identifiers:
chr7:g.29438007T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.29398391T>C , CM000669.2:g.29398391T>C | GRCh38 |
| NC_000007.13:g.29438007T>C , CM000669.1:g.29438007T>C | GRCh37 |
| NC_000007.12:g.29404532T>C | NCBI36 |
| NG_029365.2:g.256845T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409350.6:c.234T>C | ENSP00000386968.2:p.Ser78= | |
| ENST00000439384.6:n.457T>C | ||
| ENST00000446446.6:c.195T>C | ENSP00000396867.2:p.Ser65= | |
| ENST00000706158.1:c.*139T>C | ENSP00000516236.1:n.*139T>C | |
| ENST00000706159.1:c.107T>C | ENSP00000516237.1:p.Leu36Pro | |
| ENST00000706160.1:c.195T>C | ENSP00000516238.1:p.Ser65= | |
| ENST00000706161.1:c.273T>C | ENSP00000516239.1:p.Ser91= | |
| ENST00000706162.1:c.195T>C | ENSP00000516240.1:p.Ser65= | |
| ENST00000706163.1:c.50-81888T>C | ENSP00000516241.1:n.50-81888T>C | |
| ENST00000222792.11:c.195T>C MANE Select | ENSP00000222792.7:p.Ser65= | |
| ENST00000644824.1:c.420T>C | ENSP00000495614.1:p.Ser140= | |
| ENST00000222792.10:c.195T>C | ENSP00000222792.6:p.Ser65= | |
| ENST00000409350.5:c.234T>C | ENSP00000386968.1:p.Ser78= | |
| ENST00000409922.5:n.406T>C | ||
| ENST00000409964.6:n.394T>C | ||
| ENST00000412536.5:n.215T>C | ||
| ENST00000435288.6:c.168+4689T>C | ENSP00000400282.3:n.168+4689T>C | |
| ENST00000439384.5:c.420T>C | ENSP00000409843.1:p.Ser140= | |
| ENST00000474070.5:c.295T>C | ||
| ENST00000478128.6:n.289T>C | ||
| ENST00000482820.6:n.404T>C | ||
| ENST00000491856.1:n.1744T>C | ||
| ENST00000495789.6:c.195T>C | ENSP00000438587.2:p.Ser65= | |
| ENST00000539389.5:c.195T>C | ENSP00000440526.2:p.Ser65= | |
| ENST00000539406.5:c.195T>C | ENSP00000444063.2:p.Ser65= | |
| NM_001293069.1:c.420T>C | NP_001279998.1:p.Ser140= | |
| NM_001293070.1:c.234T>C | NP_001279999.1:p.Ser78= | |
| NM_001293071.1:c.90T>C | NP_001280000.1:p.Ser30= | |
| NM_001293072.1:c.150T>C | NP_001280001.1:p.Ser50= | |
| NM_004067.3:c.195T>C | NP_004058.1:p.Ser65= | |
| XM_011515105.1:c.498T>C | XP_011513407.1:p.Ser166= | |
| XM_011515106.1:c.459T>C | XP_011513408.1:p.Ser153= | |
| XM_011515107.1:c.273T>C | XP_011513409.1:p.Ser91= | |
| XM_011515108.1:c.195T>C | XP_011513410.1:p.Ser65= | |
| XM_011515109.1:c.156T>C | XP_011513411.1:p.Ser52= | |
| XM_011515110.1:c.117T>C | XP_011513412.1:p.Ser39= | |
| XM_011515111.1:c.90T>C | XP_011513413.1:p.Ser30= | |
| XM_011515112.1:c.498T>C | XP_011513414.1:p.Ser166= | |
| XM_011515105.2:c.498T>C | XP_011513407.1:p.Ser166= | |
| XM_011515106.2:c.459T>C | XP_011513408.1:p.Ser153= | |
| XM_011515107.2:c.273T>C | XP_011513409.1:p.Ser91= | |
| XM_017011721.1:c.516T>C | XP_016867210.1:p.Ser172= | |
| XM_017011722.1:c.291T>C | XP_016867211.1:p.Ser97= | |
| NM_004067.4:c.195T>C MANE Select | NP_004058.1:p.Ser65= | |
| NM_001293070.2:c.234T>C | NP_001279999.1:p.Ser78= | |
| NM_001293071.2:c.90T>C | NP_001280000.1:p.Ser30= | |
| NM_001293072.2:c.150T>C | NP_001280001.1:p.Ser50= | |
| NM_001398427.1:c.-244T>C | NP_001385356.1:n.-244T>C |