Linked Data
ClinVar Variation Id:
214106
ClinVar RCV Id:
RCV001722088
dbSNP Id:
rs201408956
ExAC:
9:38396905 GC / G
gnomAD v2:
9-38396905-GC-G
gnomAD v3:
9-38396908-GC-G
gnomAD v4:
9-38396908-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.38396909del , CM000671.2:g.38396909del | GRCh38 |
| NC_000009.11:g.38396906del , CM000671.1:g.38396906del | GRCh37 |
| NC_000009.10:g.38386906del | NCBI36 |
| NG_012253.1:g.9205del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377698.4:c.1161del MANE Select | ENSP00000366927.3:p.Gly388GlufsTer23 | |
| ENST00000377698.3:c.1161del | ENSP00000366927.3:p.Gly388GlufsTer23 | |
| NM_000692.4:c.1161del | NP_000683.3:p.Gly388GlufsTer23 | |
| XM_011517802.1:c.1161del | XP_011516104.1:p.Gly388GlufsTer23 | |
| XM_011517802.2:c.1161del | XP_011516104.1:p.Gly388GlufsTer23 | |
| NM_000692.5:c.1161del MANE Select | NP_000683.3:p.Gly388GlufsTer23 |