Linked Data
ClinVar Variation Id:
2734026
ClinVar RCV Id:
RCV003596847
dbSNP Id:
rs747215273
ExAC:
1:169541546 C / G
gnomAD v2:
1-169541546-C-G
gnomAD v3:
1-169572308-C-G
gnomAD v4:
1-169572308-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572308C>G , CM000663.2:g.169572308C>G | GRCh38 |
| NC_000001.10:g.169541546C>G , CM000663.1:g.169541546C>G | GRCh37 |
| NC_000001.9:g.167808170C>G | NCBI36 |
| NG_011806.1:g.19224G>C , LRG_553:g.19224G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.286G>C MANE Select | ENSP00000356771.3:p.Asp96His | |
| ENST00000367796.3:c.286G>C | ENSP00000356770.3:p.Asp96His | |
| ENST00000367797.7:c.286G>C | ENSP00000356771.3:p.Asp96His | |
| NM_000130.4:c.286G>C , LRG_553t1:c.286G>C | NP_000121.2:p.Asp96His | |
| XM_017000660.2:c.-126G>C | XP_016856149.1:n.-126G>C | |
| NM_000130.5:c.286G>C MANE Select | NP_000121.2:p.Asp96His |