Linked Data
ClinVar Variation Id:
213509
dbSNP Id:
rs782739586
ExAC:
X:153579366 C / T
gnomAD v2:
X-153579366-C-T
gnomAD v3:
X-154350998-C-T
gnomAD v4:
X-154350998-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350998C>T , CM000685.2:g.154350998C>T | GRCh38 |
| NC_000023.10:g.153579366C>T , CM000685.1:g.153579366C>T | GRCh37 |
| NC_000023.9:g.153232560C>T | NCBI36 |
| NG_011506.1:g.28641G>A | |
| NG_011506.2:g.28641G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7043G>A | ENSP00000353467.4:p.Ser2348Asn | |
| ENST00000369850.10:c.7067G>A MANE Select | ENSP00000358866.3:p.Ser2356Asn | |
| ENST00000369856.8:c.6986G>A | ENSP00000358872.4:p.Ser2329Asn | |
| ENST00000422373.6:c.3848G>A | ENSP00000416926.2:p.Ser1283Asn | |
| ENST00000610817.5:c.7124G>A | ENSP00000480593.2:n.7124G>A | |
| ENST00000673639.2:c.280-2308G>A | ||
| ENST00000676696.1:c.7346G>A | ENSP00000503392.1:n.7346G>A | |
| ENST00000678304.1:n.2785G>A | ||
| ENST00000344736.8:c.6947G>A | ENSP00000358863.3:p.Ser2316Asn | |
| ENST00000360319.8:c.7043G>A | ENSP00000353467.4:p.Ser2348Asn | |
| ENST00000369850.7:c.7067G>A | ENSP00000358866.3:p.Ser2356Asn | |
| ENST00000369856.7:c.6986G>A | ENSP00000358872.4:p.Ser2329Asn | |
| ENST00000420627.5:c.7023G>A | ENSP00000408921.1:n.7023G>A | |
| ENST00000422373.5:c.7043G>A | ENSP00000416926.1:p.Ser2348Asn | |
| ENST00000490936.5:n.3595G>A | ||
| ENST00000498411.1:n.67+1819G>A | ||
| ENST00000498491.5:n.108G>A | ||
| ENST00000610817.4:c.6071G>A | ENSP00000480593.1:p.Ser2024Asn | |
| NM_001110556.1:c.7067G>A | NP_001104026.1:p.Ser2356Asn | |
| NM_001456.3:c.7043G>A | NP_001447.2:p.Ser2348Asn | |
| XM_011531127.1:c.6971G>A | XP_011529429.1:p.Ser2324Asn | |
| XM_011531128.1:c.6947G>A | XP_011529430.1:p.Ser2316Asn | |
| XM_011531129.1:c.6893G>A | XP_011529431.1:p.Ser2298Asn | |
| XM_011531130.1:c.6869G>A | XP_011529432.1:p.Ser2290Asn | |
| XM_011531131.1:c.6866G>A | XP_011529433.1:p.Ser2289Asn | |
| NM_001110556.2:c.7067G>A MANE Select | NP_001104026.1:p.Ser2356Asn | |
| NM_001456.4:c.7043G>A | NP_001447.2:p.Ser2348Asn |