Linked Data
dbSNP Id:
rs1568430301
gnomAD v2:
19-7125491-C-CT
gnomAD v4:
19-7125480-C-CT
MyVariant Identifiers:
chr19:g.7125491_7125492insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7125481dup , CM000681.2:g.7125481dup | GRCh38 |
| NC_000019.9:g.7125492dup , CM000681.1:g.7125492dup | GRCh37 |
| NC_000019.8:g.7076492dup | NCBI36 |
| NG_008852.2:g.173520dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302850.10:c.3060dup MANE Select | ENSP00000303830.4:p.Glu1021ArgfsTer19 | |
| ENST00000302850.9:c.3060dup | ENSP00000303830.4:p.Glu1021ArgfsTer19 | |
| ENST00000341500.9:c.3024dup | ENSP00000342838.4:p.Glu1009ArgfsTer19 | |
| NM_000208.2:c.3060dup | NP_000199.2:p.Glu1021ArgfsTer19 | |
| NM_000208.3:c.3060dup | NP_000199.2:p.Glu1021ArgfsTer19 | |
| NM_001079817.1:c.3024dup | NP_001073285.1:p.Glu1009ArgfsTer19 | |
| NM_001079817.2:c.3024dup | NP_001073285.1:p.Glu1009ArgfsTer19 | |
| XM_011527988.1:c.3135dup | XP_011526290.1:p.Glu1046ArgfsTer19 | |
| XM_011527989.1:c.3099dup | XP_011526291.1:p.Glu1034ArgfsTer19 | |
| XM_011527988.2:c.3057dup | XP_011526290.2:p.Glu1020ArgfsTer19 | |
| XM_011527989.3:c.3021dup | XP_011526291.2:p.Glu1008ArgfsTer19 | |
| NM_000208.4:c.3060dup MANE Select | NP_000199.2:p.Glu1021ArgfsTer19 | |
| NM_001079817.3:c.3024dup | NP_001073285.1:p.Glu1009ArgfsTer19 |