Linked Data
dbSNP Id:
rs768799192
ExAC:
19:1399062 T / TG
gnomAD v2:
19-1399062-T-TG
gnomAD v3:
19-1399063-T-TG
gnomAD v4:
19-1399063-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1399068dup , CM000681.2:g.1399068dup | GRCh38 |
| NC_000019.9:g.1399067dup , CM000681.1:g.1399067dup | GRCh37 |
| NC_000019.8:g.1350067dup | NCBI36 |
| NG_009785.1:g.7490dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.460-38dup MANE Select | ENSP00000252288.1:n.460-38dup | |
| ENST00000447102.8:c.460-38dup | ENSP00000403536.2:n.460-38dup | |
| ENST00000591788.3:c.143-38dup | ||
| ENST00000640164.1:n.293-38dup | ||
| ENST00000640762.1:c.391-38dup | ENSP00000492031.1:n.391-38dup | |
| ENST00000252288.6:c.460-38dup | ENSP00000252288.1:n.460-38dup | |
| ENST00000447102.7:c.460-38dup | ENSP00000403536.2:n.460-38dup | |
| ENST00000591788.2:c.145-38dup | ENSP00000466341.2:n.145-38dup | |
| NM_000156.5:c.460-38dup | NP_000147.1:n.460-38dup | |
| NM_138924.2:c.460-38dup | NP_620279.1:n.460-38dup | |
| NM_000156.6:c.460-38dup MANE Select | NP_000147.1:n.460-38dup | |
| NM_138924.3:c.460-38dup | NP_620279.1:n.460-38dup |