Linked Data
dbSNP Id:
rs750553596
ExAC:
20:44639510 T / A
gnomAD v2:
20-44639510-T-A
gnomAD v3:
20-46010871-T-A
gnomAD v4:
20-46010871-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46010871T>A , CM000682.2:g.46010871T>A | GRCh38 |
| NC_000020.10:g.44639510T>A , CM000682.1:g.44639510T>A | GRCh37 |
| NC_000020.9:g.44072917T>A | NCBI36 |
| NG_011468.1:g.6964T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372330.3:c.521-51T>A MANE Select | ENSP00000361405.3:n.521-51T>A | |
| NM_004994.2:c.521-51T>A | NP_004985.2:n.521-51T>A | |
| NM_004994.3:c.521-51T>A MANE Select | NP_004985.2:n.521-51T>A |