Linked Data
ClinVar Variation Id:
206424
dbSNP Id:
rs796052859
gnomAD v2:
19-50367468-T-TA
gnomAD v3:
19-49864211-T-TA
gnomAD v4:
19-49864211-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49864212dup , CM000681.2:g.49864212dup | GRCh38 |
| NC_000019.9:g.50367469dup , CM000681.1:g.50367469dup | GRCh37 |
| NC_000019.8:g.55059281dup | NCBI36 |
| NG_027717.1:g.8354dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000322344.8:c.603dup MANE Select | ENSP00000323511.2:p.Lys202Ter | |
| ENST00000636214.1:c.*140dup | ENSP00000489983.1:n.*140dup | |
| ENST00000322344.7:c.603dup | ENSP00000323511.2:p.Lys202Ter | |
| ENST00000593946.5:c.*530dup | ENSP00000468896.1:n.*530dup | |
| ENST00000594661.5:n.1104dup | ||
| ENST00000596014.5:c.603dup | ENSP00000472300.1:p.Lys202Ter | |
| ENST00000599543.3:c.603dup | ENSP00000469848.2:p.Lys202Ter | |
| ENST00000600573.5:c.603dup | ENSP00000469826.1:p.Lys202Ter | |
| ENST00000600910.5:c.603dup | ENSP00000473137.1:p.Lys202Ter | |
| ENST00000627232.2:c.523dup | ENSP00000486037.1:p.Ter175LeuextTer14 | |
| ENST00000627317.1:c.258-141dup | ||
| ENST00000629179.1:n.374dup | ||
| ENST00000631020.2:c.603dup | ENSP00000486707.1:p.Lys202Ter | |
| NM_007254.3:c.603dup | NP_009185.2:p.Lys202Ter | |
| NM_007254.4:c.603dup MANE Select | NP_009185.2:p.Lys202Ter |