Linked Data
ClinVar Variation Id:
2894625
ClinVar RCV Id:
RCV003764235
dbSNP Id:
rs765088690
ExAC:
1:169524431 C / T
gnomAD v2:
1-169524431-C-T
gnomAD v4:
1-169555193-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555193C>T , CM000663.2:g.169555193C>T | GRCh38 |
| NC_000001.10:g.169524431C>T , CM000663.1:g.169524431C>T | GRCh37 |
| NC_000001.9:g.167791055C>T | NCBI36 |
| NG_011806.1:g.36339G>A , LRG_553:g.36339G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.1107G>A MANE Select | ENSP00000356771.3:p.Ala369= | |
| ENST00000367796.3:c.1107G>A | ENSP00000356770.3:p.Ala369= | |
| ENST00000367797.7:c.1107G>A | ENSP00000356771.3:p.Ala369= | |
| NM_000130.4:c.1107G>A , LRG_553t1:c.1107G>A | NP_000121.2:p.Ala369= | |
| XM_017000660.2:c.696G>A | XP_016856149.1:p.Ala232= | |
| NM_000130.5:c.1107G>A MANE Select | NP_000121.2:p.Ala369= |