Linked Data
dbSNP Id:
rs769391878
ExAC:
1:171621762 TG / T
gnomAD v2:
1-171621762-TG-T
gnomAD v4:
1-171652622-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.171652624del , CM000663.2:g.171652624del | GRCh38 |
| NC_000001.10:g.171621764del , CM000663.1:g.171621764del | GRCh37 |
| NC_000001.9:g.169888387del | NCBI36 |
| NG_008859.1:g.5011del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000037502.11:c.-12del MANE Select | ENSP00000037502.5:n.-12del | |
| ENST00000638471.1:c.-12del | ENSP00000491206.1:n.-12del | |
| ENST00000037502.10:c.-12del | ENSP00000037502.5:n.-12del | |
| ENST00000614688.1:c.-12del | ENSP00000478680.1:n.-12del | |
| NM_000261.1:c.-12del | NP_000252.1:n.-12del | |
| NM_000261.2:c.-12del MANE Select | NP_000252.1:n.-12del |