Linked Data
ClinVar Variation Id:
340835
dbSNP Id:
rs770234475
ExAC:
22:21237788 A / G
gnomAD v2:
22-21237788-A-G
gnomAD v4:
22-20883500-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20883500A>G , CM000684.2:g.20883500A>G | GRCh38 |
| NC_000022.10:g.21237788A>G , CM000684.1:g.21237788A>G | GRCh37 |
| NC_000022.9:g.19567788A>G | NCBI36 |
| NG_012152.1:g.29497A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215730.12:c.550A>G MANE Select | ENSP00000215730.6:p.Met184Val | |
| ENST00000215730.11:c.550A>G | ENSP00000215730.6:p.Met184Val | |
| ENST00000439214.1:c.271A>G | ENSP00000411095.1:p.Met91Val | |
| NM_004782.3:c.550A>G | NP_004773.1:p.Met184Val | |
| NM_004782.4:c.550A>G MANE Select | NP_004773.1:p.Met184Val |