Linked Data
ClinVar Variation Id:
197561
dbSNP Id:
rs782774918
ExAC:
X:153577283 G / A
gnomAD v2:
X-153577283-G-A
gnomAD v3:
X-154348915-G-A
gnomAD v4:
X-154348915-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348915G>A , CM000685.2:g.154348915G>A | GRCh38 |
| NC_000023.10:g.153577283G>A , CM000685.1:g.153577283G>A | GRCh37 |
| NC_000023.9:g.153230477G>A | NCBI36 |
| NG_011506.1:g.30724C>T | |
| NG_011506.2:g.30724C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7854C>T | ENSP00000353467.4:p.Tyr2618= | |
| ENST00000369850.10:c.7878C>T MANE Select | ENSP00000358866.3:p.Tyr2626= | |
| ENST00000369856.8:c.7797C>T | ENSP00000358872.4:p.Tyr2599= | |
| ENST00000422373.6:c.4659C>T | ENSP00000416926.2:p.Tyr1553= | |
| ENST00000610817.5:c.7935C>T | ENSP00000480593.2:n.7935C>T | |
| ENST00000673639.2:c.280-225C>T | ||
| ENST00000676696.1:c.8157C>T | ENSP00000503392.1:n.8157C>T | |
| ENST00000678304.1:n.3596C>T | ||
| ENST00000344736.8:c.7758C>T | ENSP00000358863.3:p.Tyr2586= | |
| ENST00000360319.8:c.7854C>T | ENSP00000353467.4:p.Tyr2618= | |
| ENST00000369850.7:c.7878C>T | ENSP00000358866.3:p.Tyr2626= | |
| ENST00000369856.7:c.7797C>T | ENSP00000358872.4:p.Tyr2599= | |
| ENST00000420627.5:c.7834C>T | ENSP00000408921.1:n.7834C>T | |
| ENST00000422373.5:c.7854C>T | ENSP00000416926.1:p.Tyr2618= | |
| ENST00000490936.5:n.5107C>T | ||
| ENST00000498411.1:n.68-85C>T | ||
| ENST00000610817.4:c.6882C>T | ENSP00000480593.1:p.Tyr2294= | |
| NM_001110556.1:c.7878C>T | NP_001104026.1:p.Tyr2626= | |
| NM_001456.3:c.7854C>T | NP_001447.2:p.Tyr2618= | |
| XM_011531127.1:c.7782C>T | XP_011529429.1:p.Tyr2594= | |
| XM_011531128.1:c.7758C>T | XP_011529430.1:p.Tyr2586= | |
| XM_011531129.1:c.7704C>T | XP_011529431.1:p.Tyr2568= | |
| XM_011531130.1:c.7680C>T | XP_011529432.1:p.Tyr2560= | |
| XM_011531131.1:c.7677C>T | XP_011529433.1:p.Tyr2559= | |
| NM_001110556.2:c.7878C>T MANE Select | NP_001104026.1:p.Tyr2626= | |
| NM_001456.4:c.7854C>T | NP_001447.2:p.Tyr2618= |