Linked Data
ClinVar Variation Id:
167075
dbSNP Id:
rs201663443
ExAC:
X:153577722 T / C
gnomAD v2:
X-153577722-T-C
gnomAD v3:
X-154349354-T-C
gnomAD v4:
X-154349354-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349354T>C , CM000685.2:g.154349354T>C | GRCh38 |
| NC_000023.10:g.153577722T>C , CM000685.1:g.153577722T>C | GRCh37 |
| NC_000023.9:g.153230916T>C | NCBI36 |
| NG_011506.1:g.30285A>G | |
| NG_011506.2:g.30285A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7732+8A>G | ENSP00000353467.4:n.7732+8A>G | |
| ENST00000369850.10:c.7756+8A>G MANE Select | ENSP00000358866.3:n.7756+8A>G | |
| ENST00000369856.8:c.7675+8A>G | ENSP00000358872.4:n.7675+8A>G | |
| ENST00000422373.6:c.4537+8A>G | ENSP00000416926.2:n.4537+8A>G | |
| ENST00000610817.5:c.7813+8A>G | ENSP00000480593.2:n.7813+8A>G | |
| ENST00000673639.2:c.280-664A>G | ||
| ENST00000676696.1:c.8035+8A>G | ENSP00000503392.1:n.8035+8A>G | |
| ENST00000678304.1:n.3474+8A>G | ||
| ENST00000344736.8:c.7636+8A>G | ENSP00000358863.3:n.7636+8A>G | |
| ENST00000360319.8:c.7732+8A>G | ENSP00000353467.4:n.7732+8A>G | |
| ENST00000369850.7:c.7756+8A>G | ENSP00000358866.3:n.7756+8A>G | |
| ENST00000369856.7:c.7675+8A>G | ENSP00000358872.4:n.7675+8A>G | |
| ENST00000420627.5:c.7712+8A>G | ENSP00000408921.1:n.7712+8A>G | |
| ENST00000422373.5:c.7732+8A>G | ENSP00000416926.1:n.7732+8A>G | |
| ENST00000462590.1:n.911+8A>G | ||
| ENST00000490936.5:n.4985+8A>G | ||
| ENST00000498411.1:n.68-524A>G | ||
| ENST00000498491.5:n.797+8A>G | ||
| ENST00000610817.4:c.6760+8A>G | ENSP00000480593.1:n.6760+8A>G | |
| NM_001110556.1:c.7756+8A>G | NP_001104026.1:n.7756+8A>G | |
| NM_001456.3:c.7732+8A>G | NP_001447.2:n.7732+8A>G | |
| XM_011531127.1:c.7660+8A>G | XP_011529429.1:n.7660+8A>G | |
| XM_011531128.1:c.7636+8A>G | XP_011529430.1:n.7636+8A>G | |
| XM_011531129.1:c.7582+8A>G | XP_011529431.1:n.7582+8A>G | |
| XM_011531130.1:c.7558+8A>G | XP_011529432.1:n.7558+8A>G | |
| XM_011531131.1:c.7555+8A>G | XP_011529433.1:n.7555+8A>G | |
| NM_001110556.2:c.7756+8A>G MANE Select | NP_001104026.1:n.7756+8A>G | |
| NM_001456.4:c.7732+8A>G | NP_001447.2:n.7732+8A>G |