Linked Data
dbSNP Id:
rs1439576784
ExAC:
21:45876527 G / A
gnomAD v2:
21-45876527-G-A
gnomAD v4:
21-44456644-G-A
MyVariant Identifiers:
chr21:g.45876527G>A (hg19)
chr21:g.45876527_45876528delinsAA (hg19)
chr21:g.44456644G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456644G>A , CM000683.2:g.44456644G>A | GRCh38 |
| NC_000021.8:g.45876527G>A , CM000683.1:g.45876527G>A | GRCh37 |
| NC_000021.7:g.44700955G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.-1G>A MANE Select | ENSP00000291592.4:n.-1G>A | |
| ENST00000291592.5:c.-1G>A | ENSP00000291592.4:n.-1G>A | |
| NM_030891.4:c.-1G>A | NP_112153.1:n.-1G>A | |
| NM_030891.5:c.-1G>A | NP_112153.1:n.-1G>A | |
| NM_030891.6:c.-1G>A MANE Select | NP_112153.1:n.-1G>A |