Linked Data
ClinVar Variation Id:
2943102
ClinVar RCV Id:
RCV003800220
dbSNP Id:
rs781999359
gnomAD v2:
X-153581147-G-T
gnomAD v4:
X-154352779-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352779G>T , CM000685.2:g.154352779G>T | GRCh38 |
| NC_000023.10:g.153581147G>T , CM000685.1:g.153581147G>T | GRCh37 |
| NC_000023.9:g.153234341G>T | NCBI36 |
| NG_011506.1:g.26860C>A | |
| NG_011506.2:g.26860C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6348C>A | ENSP00000353467.4:p.His2116Gln | |
| ENST00000369850.10:c.6372C>A MANE Select | ENSP00000358866.3:p.His2124Gln | |
| ENST00000369856.8:c.6291C>A | ENSP00000358872.4:p.His2097Gln | |
| ENST00000422373.6:c.3161-104C>A | ENSP00000416926.2:n.3161-104C>A | |
| ENST00000610817.5:c.6429C>A | ENSP00000480593.2:n.6429C>A | |
| ENST00000673639.2:c.280-4089C>A | ||
| ENST00000676696.1:c.6651C>A | ENSP00000503392.1:n.6651C>A | |
| ENST00000678304.1:n.1551C>A | ||
| ENST00000344736.8:c.6252C>A | ENSP00000358863.3:p.His2084Gln | |
| ENST00000360319.8:c.6348C>A | ENSP00000353467.4:p.His2116Gln | |
| ENST00000369850.7:c.6372C>A | ENSP00000358866.3:p.His2124Gln | |
| ENST00000369856.7:c.6291C>A | ENSP00000358872.4:p.His2097Gln | |
| ENST00000415241.1:c.574C>A | ||
| ENST00000420627.5:c.6328C>A | ENSP00000408921.1:n.6328C>A | |
| ENST00000422373.5:c.6348C>A | ENSP00000416926.1:p.His2116Gln | |
| ENST00000444578.1:c.315C>A | ENSP00000397824.1:p.His105Gln | |
| ENST00000466325.1:n.587C>A | ||
| ENST00000474358.5:n.5C>A | ||
| ENST00000490936.5:n.2361C>A | ||
| ENST00000498411.1:n.67+38C>A | ||
| ENST00000610817.4:c.5844+614C>A | ENSP00000480593.1:n.5844+614C>A | |
| NM_001110556.1:c.6372C>A | NP_001104026.1:p.His2124Gln | |
| NM_001456.3:c.6348C>A | NP_001447.2:p.His2116Gln | |
| XM_011531127.1:c.6276C>A | XP_011529429.1:p.His2092Gln | |
| XM_011531128.1:c.6252C>A | XP_011529430.1:p.His2084Gln | |
| XM_011531129.1:c.6198C>A | XP_011529431.1:p.His2066Gln | |
| XM_011531130.1:c.6174C>A | XP_011529432.1:p.His2058Gln | |
| XM_011531131.1:c.6171C>A | XP_011529433.1:p.His2057Gln | |
| NM_001110556.2:c.6372C>A MANE Select | NP_001104026.1:p.His2124Gln | |
| NM_001456.4:c.6348C>A | NP_001447.2:p.His2116Gln |