Linked Data
dbSNP Id:
rs753071595
ExAC:
20:44639531 A / G
gnomAD v2:
20-44639531-A-G
gnomAD v4:
20-46010892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010892A>G , CM000682.2:g.46010892A>G | GRCh38 |
| NC_000020.10:g.44639531A>G , CM000682.1:g.44639531A>G | GRCh37 |
| NC_000020.9:g.44072938A>G | NCBI36 |
| NG_011468.1:g.6985A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521-30A>G MANE Select | ENSP00000361405.3:n.521-30A>G | |
| NM_004994.2:c.521-30A>G | NP_004985.2:n.521-30A>G | |
| NM_004994.3:c.521-30A>G MANE Select | NP_004985.2:n.521-30A>G |