Linked Data
ClinVar Variation Id:
499246
dbSNP Id:
rs138943874
ExAC:
1:120493438 A / T
gnomAD v2:
1-120493438-A-T
gnomAD v3:
1-119950815-A-T
gnomAD v4:
1-119950815-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119950815A>T , CM000663.2:g.119950815A>T | GRCh38 |
| NC_000001.10:g.120493438A>T , CM000663.1:g.120493438A>T | GRCh37 |
| NC_000001.9:g.120294961A>T | NCBI36 |
| NG_008163.1:g.123839T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.2388T>A MANE Select | ENSP00000256646.2:p.Ile796= | |
| ENST00000640021.1:c.1608T>A | ENSP00000492223.1:n.1608T>A | |
| ENST00000256646.6:c.2388T>A | ENSP00000256646.2:p.Ile796= | |
| ENST00000479412.2:n.2526T>A | ||
| ENST00000579475.7:c.2271T>A | ENSP00000477065.2:p.Ile757= | |
| NM_001200001.1:c.2388T>A | NP_001186930.1:p.Ile796= | |
| NM_024408.3:c.2388T>A | NP_077719.2:p.Ile796= | |
| XM_005270901.2:c.2271T>A | XP_005270958.1:p.Ile757= | |
| XM_011541519.1:c.2376T>A | XP_011539821.1:p.Ile792= | |
| XM_011541520.1:c.2271T>A | XP_011539822.1:p.Ile757= | |
| NM_024408.4:c.2388T>A MANE Select | NP_077719.2:p.Ile796= | |
| NM_001200001.2:c.2388T>A | NP_001186930.1:p.Ile796= |