Linked Data
ClinVar Variation Id:
213477
dbSNP Id:
rs373089783
ExAC:
X:153582823 T / C
gnomAD v2:
X-153582823-T-C
gnomAD v3:
X-154354455-T-C
gnomAD v4:
X-154354455-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154354455T>C , CM000685.2:g.154354455T>C | GRCh38 |
| NC_000023.10:g.153582823T>C , CM000685.1:g.153582823T>C | GRCh37 |
| NC_000023.9:g.153236017T>C | NCBI36 |
| NG_011506.1:g.25184A>G | |
| NG_011506.2:g.25184A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.5318A>G | ENSP00000353467.4:p.Asn1773Ser | |
| ENST00000369850.10:c.5342A>G MANE Select | ENSP00000358866.3:p.Asn1781Ser | |
| ENST00000369856.8:c.5261A>G | ENSP00000358872.4:p.Asn1754Ser | |
| ENST00000422373.6:c.3161-1780A>G | ENSP00000416926.2:n.3161-1780A>G | |
| ENST00000610817.5:c.5399A>G | ENSP00000480593.2:n.5399A>G | |
| ENST00000673639.2:c.280-5765A>G | ||
| ENST00000676696.1:c.5621A>G | ENSP00000503392.1:n.5621A>G | |
| ENST00000678304.1:n.521A>G | ||
| ENST00000344736.8:c.5222A>G | ENSP00000358863.3:p.Asn1741Ser | |
| ENST00000360319.8:c.5318A>G | ENSP00000353467.4:p.Asn1773Ser | |
| ENST00000369850.7:c.5342A>G | ENSP00000358866.3:p.Asn1781Ser | |
| ENST00000369856.7:c.5261A>G | ENSP00000358872.4:p.Asn1754Ser | |
| ENST00000420627.5:c.5298A>G | ENSP00000408921.1:n.5298A>G | |
| ENST00000422373.5:c.5318A>G | ENSP00000416926.1:p.Asn1773Ser | |
| ENST00000438732.2:c.190A>G | ||
| ENST00000474072.1:n.94A>G | ||
| ENST00000490936.5:n.1331A>G | ||
| ENST00000610817.4:c.5261A>G | ENSP00000480593.1:p.Asn1754Ser | |
| NM_001110556.1:c.5342A>G | NP_001104026.1:p.Asn1781Ser | |
| NM_001456.3:c.5318A>G | NP_001447.2:p.Asn1773Ser | |
| XM_011531127.1:c.5246A>G | XP_011529429.1:p.Asn1749Ser | |
| XM_011531128.1:c.5222A>G | XP_011529430.1:p.Asn1741Ser | |
| XM_011531129.1:c.5342A>G | XP_011529431.1:p.Asn1781Ser | |
| XM_011531130.1:c.5318A>G | XP_011529432.1:p.Asn1773Ser | |
| XM_011531131.1:c.5141A>G | XP_011529433.1:p.Asn1714Ser | |
| NM_001110556.2:c.5342A>G MANE Select | NP_001104026.1:p.Asn1781Ser | |
| NM_001456.4:c.5318A>G | NP_001447.2:p.Asn1773Ser |