Linked Data
ClinVar Variation Id:
40684
ClinVar RCV Id:
RCV000038525
RCV000149832
RCV000515298
RCV000213008
RCV002250500
RCV002399362
RCV000787997
RCV003128391
dbSNP Id:
rs267607079
gnomAD v4:
2-39022772-C-A
ERepo:
CA261730/MONDO:0021060/004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022772C>A , CM000664.2:g.39022772C>A | GRCh38 |
| NC_000002.11:g.39249913C>A , CM000664.1:g.39249913C>A | GRCh37 |
| NC_000002.10:g.39103417C>A | NCBI36 |
| NG_007530.1:g.102692G>T , LRG_754:g.102692G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1536G>T | ||
| ENST00000685279.1:c.423G>T | ENSP00000509424.1:p.Arg141Ser | |
| ENST00000688043.1:n.1877G>T | ||
| ENST00000689668.1:n.1663G>T | ||
| ENST00000690876.1:c.1545G>T | ENSP00000508955.1:p.Arg515Ser | |
| ENST00000691229.1:c.1545G>T | ENSP00000510437.1:p.Arg515Ser | |
| ENST00000692089.1:c.1545G>T | ENSP00000508626.1:p.Arg515Ser | |
| ENST00000692620.1:c.423G>T | ENSP00000509311.1:p.Arg141Ser | |
| ENST00000402219.8:c.1656G>T MANE Select | ENSP00000384675.2:p.Arg552Ser | |
| ENST00000395038.6:c.1656G>T | ENSP00000378479.2:p.Arg552Ser | |
| ENST00000402219.6:c.1656G>T | ENSP00000384675.2:p.Arg552Ser | |
| ENST00000426016.5:c.1656G>T | ENSP00000387784.1:p.Arg552Ser | |
| NM_005633.3:c.1656G>T , LRG_754t1:c.1656G>T | NP_005624.2:p.Arg552Ser | |
| XM_005264515.3:c.1656G>T | XP_005264572.1:p.Arg552Ser | |
| XM_011533060.1:c.1749G>T | XP_011531362.1:p.Arg583Ser | |
| XM_011533061.1:c.1749G>T | XP_011531363.1:p.Arg583Ser | |
| XM_011533062.1:c.1635G>T | XP_011531364.1:p.Arg545Ser | |
| XM_011533063.1:c.1632G>T | XP_011531365.1:p.Arg544Ser | |
| XM_011533064.1:c.1485G>T | XP_011531366.1:p.Arg495Ser | |
| XM_011533065.1:c.1749G>T | XP_011531367.1:p.Arg583Ser | |
| XM_011533066.1:c.591G>T | XP_011531368.1:p.Arg197Ser | |
| XM_005264515.4:c.1656G>T | XP_005264572.1:p.Arg552Ser | |
| XM_011533062.2:c.1635G>T | XP_011531364.1:p.Arg545Ser | |
| XM_011533064.2:c.1485G>T | XP_011531366.1:p.Arg495Ser | |
| NM_001382394.1:c.1635G>T | NP_001369323.1:p.Arg545Ser | |
| NM_001382395.1:c.1656G>T | NP_001369324.1:p.Arg552Ser | |
| NM_005633.4:c.1656G>T MANE Select | NP_005624.2:p.Arg552Ser |