Linked Data
ClinVar Variation Id:
208939
ClinVar RCV Id:
RCV000201406
dbSNP Id:
rs281864764
gnomAD v3:
6-29944160-G-C
gnomAD v4:
6-29944160-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29944160G>C , CM000668.2:g.29944160G>C | GRCh38 |
| NC_000006.11:g.29911937G>C , CM000668.1:g.29911937G>C | GRCh37 |
| NC_000006.10:g.30019916G>C | NCBI36 |
| NG_029217.2:g.6696G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.658G>C | ENSP00000492789.2:p.Asp220His | |
| ENST00000706892.1:n.1512G>C | ||
| ENST00000706893.1:c.658G>C | ENSP00000516609.1:p.Asp220His | |
| ENST00000706894.1:c.658G>C | ENSP00000516610.1:p.Asp220His | |
| ENST00000706895.1:n.934G>C | ||
| ENST00000706896.1:n.1512G>C | ||
| ENST00000706897.1:n.934G>C | ||
| ENST00000706898.1:c.658G>C | ENSP00000516611.1:p.Asp220His | |
| ENST00000706899.1:n.1512G>C | ||
| ENST00000706900.1:c.574G>C | ENSP00000516617.1:p.Asp192His | |
| ENST00000706901.1:c.658G>C | ENSP00000516612.1:p.Asp220His | |
| ENST00000706902.1:c.658G>C | ENSP00000516613.1:p.Asp220His | |
| ENST00000706903.1:c.658G>C | ENSP00000516614.1:p.Asp220His | |
| ENST00000706904.1:c.658G>C | ENSP00000516615.1:p.Asp220His | |
| ENST00000706905.1:c.658G>C | ENSP00000516616.1:p.Asp220His | |
| ENST00000376809.10:c.658G>C MANE Select | ENSP00000366005.5:p.Asp220His | |
| ENST00000638375.1:c.658G>C | ENSP00000492789.1:p.Asp220His | |
| ENST00000376802.2:c.658G>C | ENSP00000365998.2:p.Asp220His | |
| ENST00000376806.9:c.658G>C | ENSP00000366002.5:p.Asp220His | |
| ENST00000376809.9:c.658G>C | ENSP00000366005.5:p.Asp220His | |
| ENST00000396634.5:c.658G>C | ENSP00000379873.1:p.Asp220His | |
| ENST00000461903.1:n.899G>C | ||
| ENST00000479320.5:n.899G>C | ||
| ENST00000495183.5:n.901G>C | ||
| ENST00000496081.5:n.475G>C | ||
| NM_002116.7:c.658G>C | NP_002107.3:p.Asp220His | |
| NM_002116.8:c.658G>C MANE Select | NP_002107.3:p.Asp220His |