Linked Data
ClinVar Variation Id:
465017
dbSNP Id:
rs202152952
ExAC:
X:153578527 A / G
gnomAD v2:
X-153578527-A-G
gnomAD v3:
X-154350159-A-G
gnomAD v4:
X-154350159-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350159A>G , CM000685.2:g.154350159A>G | GRCh38 |
| NC_000023.10:g.153578527A>G , CM000685.1:g.153578527A>G | GRCh37 |
| NC_000023.9:g.153231721A>G | NCBI36 |
| NG_011506.1:g.29480T>C | |
| NG_011506.2:g.29480T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7181T>C | ENSP00000353467.4:p.Ile2394Thr | |
| ENST00000369850.10:c.7205T>C MANE Select | ENSP00000358866.3:p.Ile2402Thr | |
| ENST00000369856.8:c.7124T>C | ENSP00000358872.4:p.Ile2375Thr | |
| ENST00000422373.6:c.3986T>C | ENSP00000416926.2:p.Ile1329Thr | |
| ENST00000610817.5:c.7262T>C | ENSP00000480593.2:n.7262T>C | |
| ENST00000673639.2:c.280-1469T>C | ||
| ENST00000676696.1:c.7484T>C | ENSP00000503392.1:n.7484T>C | |
| ENST00000678304.1:n.2923T>C | ||
| ENST00000344736.8:c.7085T>C | ENSP00000358863.3:p.Ile2362Thr | |
| ENST00000360319.8:c.7181T>C | ENSP00000353467.4:p.Ile2394Thr | |
| ENST00000369850.7:c.7205T>C | ENSP00000358866.3:p.Ile2402Thr | |
| ENST00000369856.7:c.7124T>C | ENSP00000358872.4:p.Ile2375Thr | |
| ENST00000420627.5:c.7161T>C | ENSP00000408921.1:n.7161T>C | |
| ENST00000422373.5:c.7181T>C | ENSP00000416926.1:p.Ile2394Thr | |
| ENST00000462590.1:n.197T>C | ||
| ENST00000490936.5:n.4434T>C | ||
| ENST00000498411.1:n.68-1329T>C | ||
| ENST00000498491.5:n.246T>C | ||
| ENST00000610817.4:c.6209T>C | ENSP00000480593.1:p.Ile2070Thr | |
| NM_001110556.1:c.7205T>C | NP_001104026.1:p.Ile2402Thr | |
| NM_001456.3:c.7181T>C | NP_001447.2:p.Ile2394Thr | |
| XM_011531127.1:c.7109T>C | XP_011529429.1:p.Ile2370Thr | |
| XM_011531128.1:c.7085T>C | XP_011529430.1:p.Ile2362Thr | |
| XM_011531129.1:c.7031T>C | XP_011529431.1:p.Ile2344Thr | |
| XM_011531130.1:c.7007T>C | XP_011529432.1:p.Ile2336Thr | |
| XM_011531131.1:c.7004T>C | XP_011529433.1:p.Ile2335Thr | |
| NM_001110556.2:c.7205T>C MANE Select | NP_001104026.1:p.Ile2402Thr | |
| NM_001456.4:c.7181T>C | NP_001447.2:p.Ile2394Thr |