Linked Data
ClinVar Variation Id:
211787
dbSNP Id:
rs797045846
gnomAD v2:
X-13781959-T-G
gnomAD v3:
X-13763840-T-G
gnomAD v4:
X-13763840-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13763840T>G , CM000685.2:g.13763840T>G | GRCh38 |
| NC_000023.10:g.13781959T>G , CM000685.1:g.13781959T>G | GRCh37 |
| NC_000023.9:g.13691880T>G | NCBI36 |
| NG_008872.1:g.34128T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*2277T>G | ENSP00000369941.2:n.*2277T>G | |
| ENST00000398395.8:c.*2045T>G | ENSP00000381432.5:n.*2045T>G | |
| ENST00000464463.6:n.4413T>G | ||
| ENST00000490265.6:n.3113T>G | ||
| ENST00000682237.1:c.*2144T>G | ENSP00000507121.1:n.*2144T>G | |
| ENST00000682562.1:c.*3890+1396T>G | ENSP00000507874.1:n.*3890+1396T>G | |
| ENST00000682953.1:c.*3215+1396T>G | ENSP00000507878.1:n.*3215+1396T>G | |
| ENST00000683055.1:c.*3469+1396T>G | ENSP00000508191.1:n.*3469+1396T>G | |
| ENST00000683284.1:c.*2815T>G | ENSP00000507837.1:n.*2815T>G | |
| ENST00000683427.1:c.*1241T>G | ENSP00000507290.1:n.*1241T>G | |
| ENST00000683454.1:n.2598T>G | ||
| ENST00000683637.1:n.3693T>G | ||
| ENST00000683655.1:c.*2798T>G | ENSP00000506770.1:n.*2798T>G | |
| ENST00000683713.1:c.*2815T>G | ENSP00000507797.1:n.*2815T>G | |
| ENST00000684577.1:c.*2185+1396T>G | ENSP00000507871.1:n.*2185+1396T>G | |
| ENST00000340096.11:c.2584T>G MANE Select | ENSP00000344314.6:p.Ser862Ala | |
| ENST00000340096.10:c.2584T>G | ENSP00000344314.6:p.Ser862Ala | |
| ENST00000380550.6:c.2464T>G | ENSP00000369923.3:p.Ser822Ala | |
| ENST00000380567.5:c.2164T>G | ENSP00000369941.1:p.Ser722Ala | |
| ENST00000398395.7:c.*924T>G | ENSP00000381432.4:n.*924T>G | |
| ENST00000464463.5:n.309+1396T>G | ||
| ENST00000490265.5:n.3559T>G | ||
| NM_003611.2:c.2584T>G | NP_003602.1:p.Ser862Ala | |
| XM_005274599.2:c.2605T>G | XP_005274656.1:p.Ser869Ala | |
| XM_005274602.2:c.2509+1396T>G | XP_005274659.1:n.2509+1396T>G | |
| XM_005274603.2:c.2485T>G | XP_005274660.1:p.Ser829Ala | |
| XM_005274604.2:c.2464T>G | XP_005274661.1:p.Ser822Ala | |
| XM_005274606.2:c.2440T>G | XP_005274663.1:p.Ser814Ala | |
| XM_005274607.3:c.2164T>G | XP_005274664.1:p.Ser722Ala | |
| XM_011545591.1:c.2605T>G | XP_011543893.1:p.Ser869Ala | |
| XM_011545592.1:c.2392T>G | XP_011543894.1:p.Ser798Ala | |
| XM_011545593.1:c.2605T>G | XP_011543895.1:p.Ser869Ala | |
| XM_011545594.1:c.2263T>G | XP_011543896.1:p.Ser755Ala | |
| XM_011545595.1:c.2263T>G | XP_011543897.1:p.Ser755Ala | |
| XM_011545596.1:c.2509+1396T>G | XP_011543898.1:n.2509+1396T>G | |
| XM_011545597.1:c.2068+1396T>G | XP_011543899.1:n.2068+1396T>G | |
| XM_011545598.1:c.1309T>G | XP_011543900.1:p.Ser437Ala | |
| XR_247288.2:n.2944T>G | ||
| NM_001330209.1:c.2464T>G | NP_001317138.1:p.Ser822Ala | |
| NM_001330210.1:c.2164T>G | NP_001317139.1:p.Ser722Ala | |
| XM_005274606.4:c.2440T>G | XP_005274663.1:p.Ser814Ala | |
| XM_011545592.3:c.2392T>G | XP_011543894.1:p.Ser798Ala | |
| XM_011545594.3:c.2263T>G | XP_011543896.1:p.Ser755Ala | |
| XM_011545597.2:c.2068+1396T>G | XP_011543899.1:n.2068+1396T>G | |
| XM_017029909.1:c.2164T>G | XP_016885398.1:p.Ser722Ala | |
| XM_017029911.1:c.1642T>G | XP_016885400.1:p.Ser548Ala | |
| XM_024452468.1:c.1309T>G | XP_024308236.1:p.Ser437Ala | |
| XM_024452469.1:c.1309T>G | XP_024308237.1:p.Ser437Ala | |
| XM_024452470.1:c.1309T>G | XP_024308238.1:p.Ser437Ala | |
| XM_024452471.1:c.1213+1396T>G | XP_024308239.1:n.1213+1396T>G | |
| NM_003611.3:c.2584T>G MANE Select | NP_003602.1:p.Ser862Ala | |
| NM_001330209.2:c.2464T>G | NP_001317138.1:p.Ser822Ala | |
| NM_001330210.2:c.2164T>G | NP_001317139.1:p.Ser722Ala |