Linked Data
ClinVar Variation Id:
2017496
ClinVar RCV Id:
RCV002835238
dbSNP Id:
rs770030773
ExAC:
9:131708300 TG / T
gnomAD v2:
9-131708300-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946022del , CM000671.2:g.128946022del | GRCh38 |
| NC_000009.11:g.131708301del , CM000671.1:g.131708301del | GRCh37 |
| NC_000009.10:g.130748122del | NCBI36 |
| NG_017009.1:g.6712del , LRG_744:g.6712del | |
| NG_033111.1:g.3330del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1282del MANE Select | ENSP00000361667.3:p.Gln428ArgfsTer? | |
| ENST00000372586.3:c.1282del | ENSP00000361667.3:p.Gln428ArgfsTer? | |
| ENST00000482796.1:c.39-3167del | ENSP00000417556.2:n.39-3167del | |
| NM_014908.3:c.1282del , LRG_744t1:c.1282del | NP_055723.1:p.Gln428ArgfsTer? | |
| NM_014908.4:c.1282del MANE Select | NP_055723.1:p.Gln428ArgfsTer? |