Linked Data
ClinVar Variation Id:
2924906
ClinVar RCV Id:
RCV003788608
dbSNP Id:
rs1295592293
gnomAD v2:
X-153581451-A-T
gnomAD v3:
X-154353083-A-T
gnomAD v4:
X-154353083-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353083A>T , CM000685.2:g.154353083A>T | GRCh38 |
| NC_000023.10:g.153581451A>T , CM000685.1:g.153581451A>T | GRCh37 |
| NC_000023.9:g.153234645A>T | NCBI36 |
| NG_011506.1:g.26556T>A | |
| NG_011506.2:g.26556T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6120T>A | ENSP00000353467.4:p.Ser2040Arg | |
| ENST00000369850.10:c.6144T>A MANE Select | ENSP00000358866.3:p.Ser2048Arg | |
| ENST00000369856.8:c.6063T>A | ENSP00000358872.4:p.Ser2021Arg | |
| ENST00000422373.6:c.3161-408T>A | ENSP00000416926.2:n.3161-408T>A | |
| ENST00000610817.5:c.6201T>A | ENSP00000480593.2:n.6201T>A | |
| ENST00000673639.2:c.280-4393T>A | ||
| ENST00000676696.1:c.6423T>A | ENSP00000503392.1:n.6423T>A | |
| ENST00000678304.1:n.1323T>A | ||
| ENST00000344736.8:c.6024T>A | ENSP00000358863.3:p.Ser2008Arg | |
| ENST00000360319.8:c.6120T>A | ENSP00000353467.4:p.Ser2040Arg | |
| ENST00000369850.7:c.6144T>A | ENSP00000358866.3:p.Ser2048Arg | |
| ENST00000369856.7:c.6063T>A | ENSP00000358872.4:p.Ser2021Arg | |
| ENST00000415241.1:c.346T>A | ||
| ENST00000420627.5:c.6100T>A | ENSP00000408921.1:n.6100T>A | |
| ENST00000422373.5:c.6120T>A | ENSP00000416926.1:p.Ser2040Arg | |
| ENST00000444578.1:c.87T>A | ENSP00000397824.1:p.Ser29Arg | |
| ENST00000466325.1:n.283T>A | ||
| ENST00000490936.5:n.2133T>A | ||
| ENST00000610817.4:c.5844+310T>A | ENSP00000480593.1:n.5844+310T>A | |
| NM_001110556.1:c.6144T>A | NP_001104026.1:p.Ser2048Arg | |
| NM_001456.3:c.6120T>A | NP_001447.2:p.Ser2040Arg | |
| XM_011531127.1:c.6048T>A | XP_011529429.1:p.Ser2016Arg | |
| XM_011531128.1:c.6024T>A | XP_011529430.1:p.Ser2008Arg | |
| XM_011531129.1:c.5970T>A | XP_011529431.1:p.Ser1990Arg | |
| XM_011531130.1:c.5946T>A | XP_011529432.1:p.Ser1982Arg | |
| XM_011531131.1:c.5943T>A | XP_011529433.1:p.Ser1981Arg | |
| NM_001110556.2:c.6144T>A MANE Select | NP_001104026.1:p.Ser2048Arg | |
| NM_001456.4:c.6120T>A | NP_001447.2:p.Ser2040Arg |