Linked Data
dbSNP Id:
rs906805905
gnomAD v2:
20-36991927-A-G
gnomAD v3:
20-38363273-A-G
gnomAD v4:
20-38363273-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363273A>G , CM000682.2:g.38363273A>G | GRCh38 |
| NC_000020.10:g.36991927A>G , CM000682.1:g.36991927A>G | GRCh37 |
| NC_000020.9:g.36425341A>G | NCBI36 |
| NG_034239.1:g.21863A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-702A>G MANE Select | ENSP00000217407.2:n.653-702A>G | |
| ENST00000217407.2:c.653-702A>G | ENSP00000217407.2:n.653-702A>G | |
| NM_004139.4:c.653-702A>G | NP_004130.2:n.653-702A>G | |
| NM_004139.5:c.653-702A>G MANE Select | NP_004130.2:n.653-702A>G |