Linked Data
ClinVar Variation Id:
2887678
ClinVar RCV Id:
RCV003763671
dbSNP Id:
rs1181345470
gnomAD v2:
1-169524572-A-T
gnomAD v3:
1-169555334-A-T
gnomAD v4:
1-169555334-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169555334A>T , CM000663.2:g.169555334A>T | GRCh38 |
| NC_000001.10:g.169524572A>T , CM000663.1:g.169524572A>T | GRCh37 |
| NC_000001.9:g.167791196A>T | NCBI36 |
| NG_011806.1:g.36198T>A , LRG_553:g.36198T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.966T>A MANE Select | ENSP00000356771.3:p.Ala322= | |
| ENST00000367796.3:c.966T>A | ENSP00000356770.3:p.Ala322= | |
| ENST00000367797.7:c.966T>A | ENSP00000356771.3:p.Ala322= | |
| NM_000130.4:c.966T>A , LRG_553t1:c.966T>A | NP_000121.2:p.Ala322= | |
| XM_017000660.2:c.555T>A | XP_016856149.1:p.Ala185= | |
| NM_000130.5:c.966T>A MANE Select | NP_000121.2:p.Ala322= |