Linked Data
ClinVar Variation Id:
229362
ClinVar RCV Id:
RCV000215350
dbSNP Id:
rs780379130
ExAC:
22:38151195 C / G
gnomAD v2:
22-38151195-C-G
gnomAD v3:
22-37755188-C-G
gnomAD v4:
22-37755188-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37755188C>G , CM000684.2:g.37755188C>G | GRCh38 |
| NC_000022.10:g.38151195C>G , CM000684.1:g.38151195C>G | GRCh37 |
| NC_000022.9:g.36481141C>G | NCBI36 |
| NG_012857.1:g.63201C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407319.7:c.436C>G | ENSP00000383913.2:p.His146Asp | |
| ENST00000644935.1:c.5575C>G MANE Select | ENSP00000496394.1:p.His1859Asp | |
| ENST00000331103.5:n.191C>G | ||
| ENST00000344404.10:c.*5058C>G | ENSP00000340312.6:n.*5058C>G | |
| ENST00000403663.6:c.436C>G | ENSP00000386026.2:p.His146Asp | |
| ENST00000406386.7:c.5575C>G | ENSP00000384312.3:p.His1859Asp | |
| ENST00000407319.6:c.436C>G | ENSP00000383913.2:p.His146Asp | |
| ENST00000413051.2:c.441C>G | ENSP00000400680.2:n.441C>G | |
| ENST00000417857.1:c.223C>G | ENSP00000387881.1:p.His75Asp | |
| ENST00000418339.5:c.313C>G | ENSP00000396946.1:p.His105Asp | |
| ENST00000428075.5:c.296C>G | ||
| ENST00000452519.5:c.223C>G | ENSP00000407542.1:p.His75Asp | |
| NM_001039141.2:c.5575C>G | NP_001034230.1:p.His1859Asp | |
| NM_007032.5:c.436C>G | NP_008963.3:p.His146Asp | |
| NM_138632.2:c.436C>G | NP_619538.2:p.His146Asp | |
| NM_001039141.3:c.5575C>G MANE Select | NP_001034230.1:p.His1859Asp |