Linked Data
ClinVar Variation Id:
382810
dbSNP Id:
rs373103712
ExAC:
X:153578180 C / T
gnomAD v2:
X-153578180-C-T
gnomAD v3:
X-154349812-C-T
gnomAD v4:
X-154349812-C-T
COSMIC:
COSM1165596
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154349812C>T , CM000685.2:g.154349812C>T | GRCh38 |
| NC_000023.10:g.153578180C>T , CM000685.1:g.153578180C>T | GRCh37 |
| NC_000023.9:g.153231374C>T | NCBI36 |
| NG_011506.1:g.29827G>A | |
| NG_011506.2:g.29827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7365G>A | ENSP00000353467.4:p.Ser2455= | |
| ENST00000369850.10:c.7389G>A MANE Select | ENSP00000358866.3:p.Ser2463= | |
| ENST00000369856.8:c.7308G>A | ENSP00000358872.4:p.Ser2436= | |
| ENST00000422373.6:c.4170G>A | ENSP00000416926.2:p.Ser1390= | |
| ENST00000610817.5:c.7446G>A | ENSP00000480593.2:n.7446G>A | |
| ENST00000673639.2:c.280-1122G>A | ||
| ENST00000676696.1:c.7668G>A | ENSP00000503392.1:n.7668G>A | |
| ENST00000678304.1:n.3107G>A | ||
| ENST00000344736.8:c.7269G>A | ENSP00000358863.3:p.Ser2423= | |
| ENST00000360319.8:c.7365G>A | ENSP00000353467.4:p.Ser2455= | |
| ENST00000369850.7:c.7389G>A | ENSP00000358866.3:p.Ser2463= | |
| ENST00000369856.7:c.7308G>A | ENSP00000358872.4:p.Ser2436= | |
| ENST00000420627.5:c.7345G>A | ENSP00000408921.1:n.7345G>A | |
| ENST00000422373.5:c.7365G>A | ENSP00000416926.1:p.Ser2455= | |
| ENST00000462590.1:n.544G>A | ||
| ENST00000490936.5:n.4618G>A | ||
| ENST00000498411.1:n.68-982G>A | ||
| ENST00000498491.5:n.430G>A | ||
| ENST00000610817.4:c.6393G>A | ENSP00000480593.1:p.Ser2131= | |
| NM_001110556.1:c.7389G>A | NP_001104026.1:p.Ser2463= | |
| NM_001456.3:c.7365G>A | NP_001447.2:p.Ser2455= | |
| XM_011531127.1:c.7293G>A | XP_011529429.1:p.Ser2431= | |
| XM_011531128.1:c.7269G>A | XP_011529430.1:p.Ser2423= | |
| XM_011531129.1:c.7215G>A | XP_011529431.1:p.Ser2405= | |
| XM_011531130.1:c.7191G>A | XP_011529432.1:p.Ser2397= | |
| XM_011531131.1:c.7188G>A | XP_011529433.1:p.Ser2396= | |
| NM_001110556.2:c.7389G>A MANE Select | NP_001104026.1:p.Ser2463= | |
| NM_001456.4:c.7365G>A | NP_001447.2:p.Ser2455= |