Linked Data
ClinVar Variation Id:
283005
dbSNP Id:
rs370913359
ExAC:
X:153580394 G / A
gnomAD v2:
X-153580394-G-A
gnomAD v3:
X-154352026-G-A
gnomAD v4:
X-154352026-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352026G>A , CM000685.2:g.154352026G>A | GRCh38 |
| NC_000023.10:g.153580394G>A , CM000685.1:g.153580394G>A | GRCh37 |
| NC_000023.9:g.153233588G>A | NCBI36 |
| NG_011506.1:g.27613C>T | |
| NG_011506.2:g.27613C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6746-5C>T | ENSP00000353467.4:n.6746-5C>T | |
| ENST00000369850.10:c.6770-5C>T MANE Select | ENSP00000358866.3:n.6770-5C>T | |
| ENST00000369856.8:c.6689-5C>T | ENSP00000358872.4:n.6689-5C>T | |
| ENST00000422373.6:c.3551-5C>T | ENSP00000416926.2:n.3551-5C>T | |
| ENST00000610817.5:c.6827-5C>T | ENSP00000480593.2:n.6827-5C>T | |
| ENST00000673639.2:c.280-3336C>T | ||
| ENST00000676696.1:c.7049-5C>T | ENSP00000503392.1:n.7049-5C>T | |
| ENST00000678304.1:n.1949-5C>T | ||
| ENST00000344736.8:c.6650-5C>T | ENSP00000358863.3:n.6650-5C>T | |
| ENST00000360319.8:c.6746-5C>T | ENSP00000353467.4:n.6746-5C>T | |
| ENST00000369850.7:c.6770-5C>T | ENSP00000358866.3:n.6770-5C>T | |
| ENST00000369856.7:c.6689-5C>T | ENSP00000358872.4:n.6689-5C>T | |
| ENST00000420627.5:c.6726-5C>T | ENSP00000408921.1:n.6726-5C>T | |
| ENST00000422373.5:c.6746-5C>T | ENSP00000416926.1:n.6746-5C>T | |
| ENST00000444578.1:c.590-5C>T | ENSP00000397824.1:n.590-5C>T | |
| ENST00000474358.5:n.403-5C>T | ||
| ENST00000490936.5:n.2759-5C>T | ||
| ENST00000498411.1:n.67+791C>T | ||
| ENST00000610817.4:c.5845-76C>T | ENSP00000480593.1:n.5845-76C>T | |
| NM_001110556.1:c.6770-5C>T | NP_001104026.1:n.6770-5C>T | |
| NM_001456.3:c.6746-5C>T | NP_001447.2:n.6746-5C>T | |
| XM_011531127.1:c.6674-5C>T | XP_011529429.1:n.6674-5C>T | |
| XM_011531128.1:c.6650-5C>T | XP_011529430.1:n.6650-5C>T | |
| XM_011531129.1:c.6596-5C>T | XP_011529431.1:n.6596-5C>T | |
| XM_011531130.1:c.6572-5C>T | XP_011529432.1:n.6572-5C>T | |
| XM_011531131.1:c.6569-5C>T | XP_011529433.1:n.6569-5C>T | |
| NM_001110556.2:c.6770-5C>T MANE Select | NP_001104026.1:n.6770-5C>T | |
| NM_001456.4:c.6746-5C>T | NP_001447.2:n.6746-5C>T |