Linked Data
ClinVar Variation Id:
48014
dbSNP Id:
rs41282942
ExAC:
11:17552707 C / A
gnomAD v2:
11-17552707-C-A
gnomAD v3:
11-17531160-C-A
gnomAD v4:
11-17531160-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17531160C>A , CM000673.2:g.17531160C>A | GRCh38 |
| NC_000011.9:g.17552707C>A , CM000673.1:g.17552707C>A | GRCh37 |
| NC_000011.8:g.17509283C>A | NCBI36 |
| NG_011883.1:g.18257G>T | |
| NG_011883.2:g.18257G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005226.12:c.381G>T MANE Select | ENSP00000005226.7:p.Gly127= | |
| ENST00000318024.9:c.381G>T MANE Plus Clinical | ENSP00000317018.4:p.Gly127= | |
| ENST00000005226.11:c.381G>T | ENSP00000005226.7:p.Gly127= | |
| ENST00000318024.8:c.381G>T | ENSP00000317018.4:p.Gly127= | |
| ENST00000526181.1:c.414G>T | ENSP00000437128.1:p.Gly138= | |
| ENST00000526313.5:c.381G>T | ENSP00000432236.1:p.Gly127= | |
| ENST00000527020.5:c.381G>T | ENSP00000436934.1:p.Gly127= | |
| ENST00000527720.5:c.288G>T | ENSP00000432944.1:p.Gly96= | |
| NM_001297764.1:c.381G>T | NP_001284693.1:p.Gly127= | |
| NM_005709.3:c.381G>T | NP_005700.2:p.Gly127= | |
| NM_153676.3:c.381G>T | NP_710142.1:p.Gly127= | |
| NR_123738.1:n.490G>T | ||
| XM_011519831.1:c.381G>T | XP_011518133.1:p.Gly127= | |
| XM_011519832.1:c.381G>T | XP_011518134.1:p.Gly127= | |
| XM_011519833.1:c.381G>T | XP_011518135.1:p.Gly127= | |
| XM_011519834.1:c.381G>T | XP_011518136.1:p.Gly127= | |
| XR_930841.1:n.490G>T | ||
| XR_930842.1:n.490G>T | ||
| XM_011519832.3:c.381G>T | XP_011518134.1:p.Gly127= | |
| XM_011519834.2:c.381G>T | XP_011518136.1:p.Gly127= | |
| XM_017017072.1:c.381G>T | XP_016872561.1:p.Gly127= | |
| XM_017017073.1:c.381G>T | XP_016872562.1:p.Gly127= | |
| XM_017017074.1:c.381G>T | XP_016872563.1:p.Gly127= | |
| XM_017017075.1:c.381G>T | XP_016872564.1:p.Gly127= | |
| XR_001747717.2:n.490G>T | ||
| NM_153676.4:c.381G>T MANE Select | NP_710142.1:p.Gly127= | |
| NM_001297764.2:c.381G>T | NP_001284693.1:p.Gly127= | |
| NM_005709.4:c.381G>T MANE Plus Clinical | NP_005700.2:p.Gly127= | |
| NR_123738.2:n.490G>T |