Linked Data
ClinVar Variation Id:
1574618
dbSNP Id:
rs376783033
gnomAD v3:
X-154348906-C-T
gnomAD v4:
X-154348906-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154348906C>T , CM000685.2:g.154348906C>T | GRCh38 |
| NC_000023.10:g.153577274C>T , CM000685.1:g.153577274C>T | GRCh37 |
| NC_000023.9:g.153230468C>T | NCBI36 |
| NG_011506.1:g.30733G>A | |
| NG_011506.2:g.30733G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7863G>A | ENSP00000353467.4:p.Val2621= | |
| ENST00000369850.10:c.7887G>A MANE Select | ENSP00000358866.3:p.Val2629= | |
| ENST00000369856.8:c.7806G>A | ENSP00000358872.4:p.Val2602= | |
| ENST00000422373.6:c.4668G>A | ENSP00000416926.2:p.Val1556= | |
| ENST00000610817.5:c.7944G>A | ENSP00000480593.2:n.7944G>A | |
| ENST00000673639.2:c.280-216G>A | ||
| ENST00000676696.1:c.8166G>A | ENSP00000503392.1:n.8166G>A | |
| ENST00000678304.1:n.3605G>A | ||
| ENST00000344736.8:c.7767G>A | ENSP00000358863.3:p.Val2589= | |
| ENST00000360319.8:c.7863G>A | ENSP00000353467.4:p.Val2621= | |
| ENST00000369850.7:c.7887G>A | ENSP00000358866.3:p.Val2629= | |
| ENST00000369856.7:c.7806G>A | ENSP00000358872.4:p.Val2602= | |
| ENST00000420627.5:c.7843G>A | ENSP00000408921.1:n.7843G>A | |
| ENST00000422373.5:c.7863G>A | ENSP00000416926.1:p.Val2621= | |
| ENST00000490936.5:n.5116G>A | ||
| ENST00000498411.1:n.68-76G>A | ||
| ENST00000610817.4:c.6891G>A | ENSP00000480593.1:p.Val2297= | |
| NM_001110556.1:c.7887G>A | NP_001104026.1:p.Val2629= | |
| NM_001456.3:c.7863G>A | NP_001447.2:p.Val2621= | |
| XM_011531127.1:c.7791G>A | XP_011529429.1:p.Val2597= | |
| XM_011531128.1:c.7767G>A | XP_011529430.1:p.Val2589= | |
| XM_011531129.1:c.7713G>A | XP_011529431.1:p.Val2571= | |
| XM_011531130.1:c.7689G>A | XP_011529432.1:p.Val2563= | |
| XM_011531131.1:c.7686G>A | XP_011529433.1:p.Val2562= | |
| NM_001110556.2:c.7887G>A MANE Select | NP_001104026.1:p.Val2629= | |
| NM_001456.4:c.7863G>A | NP_001447.2:p.Val2621= |