Linked Data
ClinVar Variation Id:
519894
dbSNP Id:
rs1557176627
gnomAD v3:
X-154354915-G-T
gnomAD v4:
X-154354915-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154354915G>T , CM000685.2:g.154354915G>T | GRCh38 |
| NC_000023.10:g.153583283G>T , CM000685.1:g.153583283G>T | GRCh37 |
| NC_000023.9:g.153236477G>T | NCBI36 |
| NG_011506.1:g.24724C>A | |
| NG_011506.2:g.24724C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.5103C>A | ENSP00000353467.4:p.Asp1701Glu | |
| ENST00000369850.10:c.5127C>A MANE Select | ENSP00000358866.3:p.Asp1709Glu | |
| ENST00000369856.8:c.5046C>A | ENSP00000358872.4:p.Asp1682Glu | |
| ENST00000422373.6:c.3161-2240C>A | ENSP00000416926.2:n.3161-2240C>A | |
| ENST00000610817.5:c.5184C>A | ENSP00000480593.2:n.5184C>A | |
| ENST00000673639.2:c.280-6225C>A | ||
| ENST00000676696.1:c.5406C>A | ENSP00000503392.1:n.5406C>A | |
| ENST00000678304.1:n.306C>A | ||
| ENST00000344736.8:c.5103C>A | ENSP00000358863.3:p.Asp1701Glu | |
| ENST00000360319.8:c.5103C>A | ENSP00000353467.4:p.Asp1701Glu | |
| ENST00000369850.7:c.5127C>A | ENSP00000358866.3:p.Asp1709Glu | |
| ENST00000369856.7:c.5046C>A | ENSP00000358872.4:p.Asp1682Glu | |
| ENST00000420627.5:c.5083C>A | ENSP00000408921.1:n.5083C>A | |
| ENST00000422373.5:c.5103C>A | ENSP00000416926.1:p.Asp1701Glu | |
| ENST00000490936.5:n.1116C>A | ||
| ENST00000610817.4:c.5046C>A | ENSP00000480593.1:p.Asp1682Glu | |
| NM_001110556.1:c.5127C>A | NP_001104026.1:p.Asp1709Glu | |
| NM_001456.3:c.5103C>A | NP_001447.2:p.Asp1701Glu | |
| XM_011531127.1:c.5127C>A | XP_011529429.1:p.Asp1709Glu | |
| XM_011531128.1:c.5103C>A | XP_011529430.1:p.Asp1701Glu | |
| XM_011531129.1:c.5127C>A | XP_011529431.1:p.Asp1709Glu | |
| XM_011531130.1:c.5103C>A | XP_011529432.1:p.Asp1701Glu | |
| XM_011531131.1:c.4926C>A | XP_011529433.1:p.Asp1642Glu | |
| NM_001110556.2:c.5127C>A MANE Select | NP_001104026.1:p.Asp1709Glu | |
| NM_001456.4:c.5103C>A | NP_001447.2:p.Asp1701Glu |