Linked Data
dbSNP Id:
rs763047196
ExAC:
21:45708201 G / GAC
gnomAD v2:
21-45708201-G-GAC
gnomAD v3:
21-44288318-G-GAC
gnomAD v4:
21-44288318-G-GAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44288319_44288320dup , CM000683.2:g.44288319_44288320dup | GRCh38 |
| NC_000021.8:g.45708202_45708203dup , CM000683.1:g.45708202_45708203dup | GRCh37 |
| NC_000021.7:g.44532630_44532631dup | NCBI36 |
| NG_009556.1:g.7440_7441dup , LRG_18:g.7440_7441dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.539-26_539-25dup MANE Select | ENSP00000291582.5:n.539-26_539-25dup | |
| ENST00000291582.5:c.539-26_539-25dup | ENSP00000291582.5:n.539-26_539-25dup | |
| ENST00000527919.5:n.1083-26_1083-25dup | ||
| ENST00000530812.5:n.1091-26_1091-25dup | ||
| NM_000383.3:c.539-26_539-25dup | NP_000374.1:n.539-26_539-25dup | |
| XM_011529551.1:c.539-26_539-25dup | XP_011527853.1:n.539-26_539-25dup | |
| NM_000383.4:c.539-26_539-25dup MANE Select | NP_000374.1:n.539-26_539-25dup |