Linked Data
ClinVar Variation Id:
2128559
ClinVar RCV Id:
RCV003040099
MyVariant Identifiers:
chrX:g.153581457A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154353089A>G , CM000685.2:g.154353089A>G | GRCh38 |
| NC_000023.10:g.153581457A>G , CM000685.1:g.153581457A>G | GRCh37 |
| NC_000023.9:g.153234651A>G | NCBI36 |
| NG_011506.1:g.26550T>C | |
| NG_011506.2:g.26550T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6114T>C | ENSP00000353467.4:p.Asp2038= | |
| ENST00000369850.10:c.6138T>C MANE Select | ENSP00000358866.3:p.Asp2046= | |
| ENST00000369856.8:c.6057T>C | ENSP00000358872.4:p.Asp2019= | |
| ENST00000422373.6:c.3161-414T>C | ENSP00000416926.2:n.3161-414T>C | |
| ENST00000610817.5:c.6195T>C | ENSP00000480593.2:n.6195T>C | |
| ENST00000673639.2:c.280-4399T>C | ||
| ENST00000676696.1:c.6417T>C | ENSP00000503392.1:n.6417T>C | |
| ENST00000678304.1:n.1317T>C | ||
| ENST00000344736.8:c.6018T>C | ENSP00000358863.3:p.Asp2006= | |
| ENST00000360319.8:c.6114T>C | ENSP00000353467.4:p.Asp2038= | |
| ENST00000369850.7:c.6138T>C | ENSP00000358866.3:p.Asp2046= | |
| ENST00000369856.7:c.6057T>C | ENSP00000358872.4:p.Asp2019= | |
| ENST00000415241.1:c.340T>C | ||
| ENST00000420627.5:c.6094T>C | ENSP00000408921.1:n.6094T>C | |
| ENST00000422373.5:c.6114T>C | ENSP00000416926.1:p.Asp2038= | |
| ENST00000444578.1:c.81T>C | ENSP00000397824.1:p.Asp27= | |
| ENST00000466325.1:n.277T>C | ||
| ENST00000490936.5:n.2127T>C | ||
| ENST00000610817.4:c.5844+304T>C | ENSP00000480593.1:n.5844+304T>C | |
| NM_001110556.1:c.6138T>C | NP_001104026.1:p.Asp2046= | |
| NM_001456.3:c.6114T>C | NP_001447.2:p.Asp2038= | |
| XM_011531127.1:c.6042T>C | XP_011529429.1:p.Asp2014= | |
| XM_011531128.1:c.6018T>C | XP_011529430.1:p.Asp2006= | |
| XM_011531129.1:c.5964T>C | XP_011529431.1:p.Asp1988= | |
| XM_011531130.1:c.5940T>C | XP_011529432.1:p.Asp1980= | |
| XM_011531131.1:c.5937T>C | XP_011529433.1:p.Asp1979= | |
| NM_001110556.2:c.6138T>C MANE Select | NP_001104026.1:p.Asp2046= | |
| NM_001456.4:c.6114T>C | NP_001447.2:p.Asp2038= |