Linked Data
dbSNP Id:
rs773014424
ExAC:
11:17522620 C / T
gnomAD v2:
11-17522620-C-T
gnomAD v4:
11-17501073-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17501073C>T , CM000673.2:g.17501073C>T | GRCh38 |
| NC_000011.9:g.17522620C>T , CM000673.1:g.17522620C>T | GRCh37 |
| NC_000011.8:g.17479196C>T | NCBI36 |
| NG_011883.1:g.48344G>A | |
| NG_011883.2:g.48344G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.2358G>A MANE Select | ENSP00000005226.7:p.Glu786= | |
| ENST00000318024.9:c.1458G>A MANE Plus Clinical | ENSP00000317018.4:p.Glu486= | |
| ENST00000005226.11:c.2358G>A | ENSP00000005226.7:p.Glu786= | |
| ENST00000318024.8:c.1458G>A | ENSP00000317018.4:p.Glu486= | |
| ENST00000526313.5:c.*172G>A | ENSP00000432236.1:n.*172G>A | |
| ENST00000527020.5:c.1401G>A | ENSP00000436934.1:p.Glu467= | |
| ENST00000527720.5:c.1365G>A | ENSP00000432944.1:p.Glu455= | |
| ENST00000529563.5:n.342G>A | ||
| ENST00000534556.1:n.243G>A | ||
| NM_001297764.1:c.1401G>A | NP_001284693.1:p.Glu467= | |
| NM_005709.3:c.1458G>A | NP_005700.2:p.Glu486= | |
| NM_153676.3:c.2358G>A | NP_710142.1:p.Glu786= | |
| NR_123738.1:n.1493G>A | ||
| XM_011519831.1:c.2382G>A | XP_011518133.1:p.Glu794= | |
| XM_011519832.1:c.1611G>A | XP_011518134.1:p.Glu537= | |
| XM_011519833.1:c.*65G>A | XP_011518135.1:n.*65G>A | |
| XR_930841.1:n.1829G>A | ||
| XR_930842.1:n.1770G>A | ||
| XM_011519832.3:c.1611G>A | XP_011518134.1:p.Glu537= | |
| XM_017017075.1:c.2358G>A | XP_016872564.1:p.Glu786= | |
| XR_001747717.2:n.1617G>A | ||
| NM_153676.4:c.2358G>A MANE Select | NP_710142.1:p.Glu786= | |
| NM_001297764.2:c.1401G>A | NP_001284693.1:p.Glu467= | |
| NM_005709.4:c.1458G>A MANE Plus Clinical | NP_005700.2:p.Glu486= | |
| NR_123738.2:n.1493G>A |