Linked Data
ClinVar Variation Id:
1405037
dbSNP Id:
rs151194891
ExAC:
1:230841824 C / G
gnomAD v2:
1-230841824-C-G
gnomAD v3:
1-230706078-C-G
gnomAD v4:
1-230706078-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230706078C>G , CM000663.2:g.230706078C>G | GRCh38 |
| NC_000001.10:g.230841824C>G , CM000663.1:g.230841824C>G | GRCh37 |
| NC_000001.9:g.228908447C>G | NCBI36 |
| NG_008836.1:g.13513G>C | |
| NG_008836.2:g.13513G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.952G>C MANE Select | ENSP00000355627.5:p.Asp318His | |
| ENST00000679684.1:c.952G>C | ENSP00000505981.1:p.Asp318His | |
| ENST00000679738.1:c.952G>C | ENSP00000505063.1:p.Asp318His | |
| ENST00000679802.1:c.*411G>C | ENSP00000505184.1:n.*411G>C | |
| ENST00000679854.1:n.5257G>C | ||
| ENST00000679957.1:c.952G>C | ENSP00000506646.1:p.Asp318His | |
| ENST00000680041.1:c.952G>C | ENSP00000504866.1:p.Asp318His | |
| ENST00000680783.1:c.829+3917G>C | ENSP00000506329.1:n.829+3917G>C | |
| ENST00000681269.1:c.952G>C | ENSP00000505985.1:p.Asp318His | |
| ENST00000681347.1:n.1463G>C | ||
| ENST00000681514.1:c.952G>C | ENSP00000505963.1:p.Asp318His | |
| ENST00000681772.1:c.952G>C | ENSP00000505829.1:p.Asp318His | |
| ENST00000366667.4:c.979G>C | ENSP00000355627.4:p.Asp327His | |
| NM_000029.3:c.979G>C | NP_000020.1:p.Asp327His | |
| NM_000029.4:c.979G>C | NP_000020.1:p.Asp327His | |
| NM_001382817.3:c.952G>C | NP_001369746.2:p.Asp318His | |
| NM_001384479.1:c.952G>C MANE Select | NP_001371408.1:p.Asp318His |