Linked Data
dbSNP Id:
rs1387629710
gnomAD v2:
19-12768054-A-AC
gnomAD v3:
19-12657240-A-AC
gnomAD v4:
19-12657240-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12657241dup , CM000681.2:g.12657241dup | GRCh38 |
| NC_000019.9:g.12768055dup , CM000681.1:g.12768055dup | GRCh37 |
| NC_000019.8:g.12629055dup | NCBI36 |
| NG_008318.1:g.14537dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1420-185dup MANE Select | ENSP00000395473.2:n.1420-185dup | |
| ENST00000221363.8:c.1417-185dup | ENSP00000221363.4:n.1417-185dup | |
| ENST00000456935.6:c.1420-185dup | ENSP00000395473.2:n.1420-185dup | |
| ENST00000466794.5:n.1319-185dup | ||
| ENST00000495617.1:n.596-185dup | ||
| ENST00000593686.1:c.30-185dup | ||
| ENST00000595880.5:n.16+123dup | ||
| NM_000528.3:c.1420-185dup | NP_000519.2:n.1420-185dup | |
| NM_001173498.1:c.1417-185dup | NP_001166969.1:n.1417-185dup | |
| XM_005259913.1:c.1423-185dup | XP_005259970.1:n.1423-185dup | |
| XM_011528017.1:c.319-185dup | XP_011526319.1:n.319-185dup | |
| XM_005259913.2:c.1423-185dup | XP_005259970.1:n.1423-185dup | |
| XM_024451518.1:c.319-185dup | XP_024307286.1:n.319-185dup | |
| NM_000528.4:c.1420-185dup MANE Select | NP_000519.2:n.1420-185dup | |
| NM_001173498.2:c.1417-185dup | NP_001166969.1:n.1417-185dup |