Linked Data
ClinVar Variation Id:
213448
dbSNP Id:
rs863223617
gnomAD v3:
X-154359131-G-T
gnomAD v4:
X-154359131-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154359131G>T , CM000685.2:g.154359131G>T | GRCh38 |
| NC_000023.10:g.153587499G>T , CM000685.1:g.153587499G>T | GRCh37 |
| NC_000023.9:g.153240693G>T | NCBI36 |
| NG_011506.1:g.20508C>A | |
| NG_011506.2:g.20508C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.4327C>A | ENSP00000353467.4:p.His1443Asn | |
| ENST00000369850.10:c.4327C>A MANE Select | ENSP00000358866.3:p.His1443Asn | |
| ENST00000369856.8:c.4246C>A | ENSP00000358872.4:p.His1416Asn | |
| ENST00000422373.6:c.3160+2224C>A | ENSP00000416926.2:n.3160+2224C>A | |
| ENST00000610817.5:c.4384C>A | ENSP00000480593.2:n.4384C>A | |
| ENST00000673639.2:c.279+6305C>A | ||
| ENST00000676696.1:c.4606C>A | ENSP00000503392.1:n.4606C>A | |
| ENST00000678304.1:n.106C>A | ||
| ENST00000344736.8:c.4327C>A | ENSP00000358863.3:p.His1443Asn | |
| ENST00000360319.8:c.4327C>A | ENSP00000353467.4:p.His1443Asn | |
| ENST00000369850.7:c.4327C>A | ENSP00000358866.3:p.His1443Asn | |
| ENST00000369856.7:c.4246C>A | ENSP00000358872.4:p.His1416Asn | |
| ENST00000420627.5:c.4283C>A | ENSP00000408921.1:n.4283C>A | |
| ENST00000422373.5:c.4327C>A | ENSP00000416926.1:p.His1443Asn | |
| ENST00000490936.5:n.340C>A | ||
| ENST00000610817.4:c.4246C>A | ENSP00000480593.1:p.His1416Asn | |
| NM_001110556.1:c.4327C>A | NP_001104026.1:p.His1443Asn | |
| NM_001456.3:c.4327C>A | NP_001447.2:p.His1443Asn | |
| XM_011531127.1:c.4327C>A | XP_011529429.1:p.His1443Asn | |
| XM_011531128.1:c.4327C>A | XP_011529430.1:p.His1443Asn | |
| XM_011531129.1:c.4327C>A | XP_011529431.1:p.His1443Asn | |
| XM_011531130.1:c.4327C>A | XP_011529432.1:p.His1443Asn | |
| XM_011531131.1:c.4126C>A | XP_011529433.1:p.His1376Asn | |
| NM_001110556.2:c.4327C>A MANE Select | NP_001104026.1:p.His1443Asn | |
| NM_001456.4:c.4327C>A | NP_001447.2:p.His1443Asn |