Linked Data
dbSNP Id:
rs756458252
ExAC:
20:56138066 A / AG
gnomAD v2:
20-56138066-A-AG
gnomAD v4:
20-57563010-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57563014dup , CM000682.2:g.57563014dup | GRCh38 |
| NC_000020.10:g.56138070dup , CM000682.1:g.56138070dup | GRCh37 |
| NC_000020.9:g.55571476dup | NCBI36 |
| NG_008205.1:g.6934dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.611-14dup MANE Select | ENSP00000319814.4:n.611-14dup | |
| ENST00000319441.5:c.611-14dup | ENSP00000319814.4:n.611-14dup | |
| ENST00000467047.1:n.1935dup | ||
| ENST00000470051.1:n.181dup | ||
| ENST00000498194.1:n.553-14dup | ||
| NM_002591.3:c.611-14dup | NP_002582.3:n.611-14dup | |
| XM_011528839.1:c.215-14dup | XP_011527141.1:n.215-14dup | |
| XM_024451888.1:c.215-14dup | XP_024307656.1:n.215-14dup | |
| NM_002591.4:c.611-14dup MANE Select | NP_002582.3:n.611-14dup |