Linked Data
ClinVar Variation Id:
93347
ClinVar RCV Id:
RCV000180523
dbSNP Id:
rs398123492
gnomAD v2:
19-41930483-GCA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424580_41424581del , CM000681.2:g.41424580_41424581del | GRCh38 |
| NC_000019.9:g.41930485_41930486del , CM000681.1:g.41930485_41930486del | GRCh37 |
| NC_000019.8:g.46622325_46622326del | NCBI36 |
| NG_013004.1:g.31792_31793del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000269980.7:c.1310_1311del MANE Select | ENSP00000269980.2:p.His437LeufsTer8 | |
| ENST00000269980.6:c.1310_1311del | ENSP00000269980.2:p.His437LeufsTer8 | |
| ENST00000457836.6:c.1319_1320del | ENSP00000416000.2:p.His440LeufsTer8 | |
| ENST00000540732.3:c.1412_1413del | ENSP00000443246.1:p.His471LeufsTer8 | |
| ENST00000544905.1:c.140_141del | ||
| ENST00000595085.5:c.922+1883_922+1884del | ENSP00000471150.2:n.922+1883_922+1884del | |
| NM_000709.3:c.1310_1311del | NP_000700.1:p.His437LeufsTer8 | |
| NM_001164783.1:c.1307_1308del | NP_001158255.1:p.His436LeufsTer8 | |
| NM_000709.4:c.1310_1311del MANE Select | NP_000700.1:p.His437LeufsTer8 | |
| NM_001164783.2:c.1307_1308del | NP_001158255.1:p.His436LeufsTer8 |