Linked Data
ClinVar Variation Id:
705286
dbSNP Id:
rs782530835
ExAC:
X:153577337 G / A
gnomAD v2:
X-153577337-G-A
gnomAD v3:
X-154348969-G-A
gnomAD v4:
X-154348969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348969G>A , CM000685.2:g.154348969G>A | GRCh38 |
| NC_000023.10:g.153577337G>A , CM000685.1:g.153577337G>A | GRCh37 |
| NC_000023.9:g.153230531G>A | NCBI36 |
| NG_011506.1:g.30670C>T | |
| NG_011506.2:g.30670C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7800C>T | ENSP00000353467.4:p.His2600= | |
| ENST00000369850.10:c.7824C>T MANE Select | ENSP00000358866.3:p.His2608= | |
| ENST00000369856.8:c.7743C>T | ENSP00000358872.4:p.His2581= | |
| ENST00000422373.6:c.4605C>T | ENSP00000416926.2:p.His1535= | |
| ENST00000610817.5:c.7881C>T | ENSP00000480593.2:n.7881C>T | |
| ENST00000673639.2:c.280-279C>T | ||
| ENST00000676696.1:c.8103C>T | ENSP00000503392.1:n.8103C>T | |
| ENST00000678304.1:n.3542C>T | ||
| ENST00000344736.8:c.7704C>T | ENSP00000358863.3:p.His2568= | |
| ENST00000360319.8:c.7800C>T | ENSP00000353467.4:p.His2600= | |
| ENST00000369850.7:c.7824C>T | ENSP00000358866.3:p.His2608= | |
| ENST00000369856.7:c.7743C>T | ENSP00000358872.4:p.His2581= | |
| ENST00000420627.5:c.7780C>T | ENSP00000408921.1:n.7780C>T | |
| ENST00000422373.5:c.7800C>T | ENSP00000416926.1:p.His2600= | |
| ENST00000462590.1:n.979C>T | ||
| ENST00000490936.5:n.5053C>T | ||
| ENST00000498411.1:n.68-139C>T | ||
| ENST00000498491.5:n.865C>T | ||
| ENST00000610817.4:c.6828C>T | ENSP00000480593.1:p.His2276= | |
| NM_001110556.1:c.7824C>T | NP_001104026.1:p.His2608= | |
| NM_001456.3:c.7800C>T | NP_001447.2:p.His2600= | |
| XM_011531127.1:c.7728C>T | XP_011529429.1:p.His2576= | |
| XM_011531128.1:c.7704C>T | XP_011529430.1:p.His2568= | |
| XM_011531129.1:c.7650C>T | XP_011529431.1:p.His2550= | |
| XM_011531130.1:c.7626C>T | XP_011529432.1:p.His2542= | |
| XM_011531131.1:c.7623C>T | XP_011529433.1:p.His2541= | |
| NM_001110556.2:c.7824C>T MANE Select | NP_001104026.1:p.His2608= | |
| NM_001456.4:c.7800C>T | NP_001447.2:p.His2600= |