Linked Data
ClinVar Variation Id:
370255
ClinVar RCV Id:
RCV000410353
dbSNP Id:
rs1057516354
PubMed:
PMID:18285825
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107690212del , CM000669.2:g.107690212del | GRCh38 |
| NC_000007.13:g.107330657del , CM000669.1:g.107330657del | GRCh37 |
| NC_000007.12:g.107117893del | NCBI36 |
| NG_008489.1:g.34578del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1238del MANE Select | ENSP00000494017.1:p.Gln413ArgfsTer19 | |
| ENST00000265715.7:c.1238del | ENSP00000265715.3:p.Gln413ArgfsTer19 | |
| NM_000441.1:c.1238del | NP_000432.1:p.Gln413ArgfsTer19 | |
| XM_005250425.1:c.1238del | XP_005250482.1:p.Gln413ArgfsTer19 | |
| XM_006716025.2:c.1238del | XP_006716088.1:p.Gln413ArgfsTer30 | |
| XM_005250425.2:c.1238del | XP_005250482.1:p.Gln413ArgfsTer19 | |
| XM_006716025.3:c.1238del | XP_006716088.1:p.Gln413ArgfsTer30 | |
| XM_017012318.1:c.1238del | XP_016867807.1:p.Gln413ArgfsTer16 | |
| NM_000441.2:c.1238del MANE Select | NP_000432.1:p.Gln413ArgfsTer19 |