Linked Data
ClinVar Variation Id:
9139
dbSNP Id:
rs397515379
ExAC:
8:63978501 T / TAA
gnomAD v2:
8-63978501-T-TAA
gnomAD v3:
8-63065942-T-TAA
gnomAD v4:
8-63065942-T-TAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63065942_63065943insAA , CM000670.2:g.63065942_63065943insAA | GRCh38 |
| NC_000008.10:g.63978501_63978502insAA , CM000670.1:g.63978501_63978502insAA | GRCh37 |
| NC_000008.9:g.64141055_64141056insAA | NCBI36 |
| NG_016123.1:g.25111_25112insTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260116.5:c.513_514insTT MANE Select | ENSP00000260116.4:p.Thr172LeufsTer5 | |
| ENST00000260116.4:c.513_514insTT | ENSP00000260116.4:p.Thr172LeufsTer5 | |
| ENST00000521138.1:n.233-17340_233-17339insTT | ||
| NM_000370.3:c.513_514insTT MANE Select | NP_000361.1:p.Thr172LeufsTer5 | |
| XM_006716468.2:c.205-1627_205-1626insTT | XP_006716531.1:n.205-1627_205-1626insTT | |
| XM_006716468.4:c.205-1627_205-1626insTT | XP_006716531.1:n.205-1627_205-1626insTT |