Linked Data
ClinVar Variation Id:
196927
ClinVar RCV Id:
RCV000177814
dbSNP Id:
rs143506822
gnomAD v4:
1-119915725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119915725C>T , CM000663.2:g.119915725C>T | GRCh38 |
| NC_000001.10:g.120458348C>T , CM000663.1:g.120458348C>T | GRCh37 |
| NC_000001.9:g.120259871C>T | NCBI36 |
| NG_008163.1:g.158929G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256646.7:c.6997G>A MANE Select | ENSP00000256646.2:p.Ala2333Thr | |
| ENST00000256646.6:c.6997G>A | ENSP00000256646.2:p.Ala2333Thr | |
| NM_024408.3:c.6997G>A | NP_077719.2:p.Ala2333Thr | |
| XM_005270901.2:c.6880G>A | XP_005270958.1:p.Ala2294Thr | |
| XM_011541519.1:c.6985G>A | XP_011539821.1:p.Ala2329Thr | |
| XM_011541520.1:c.6880G>A | XP_011539822.1:p.Ala2294Thr | |
| NM_024408.4:c.6997G>A MANE Select | NP_077719.2:p.Ala2333Thr |