Linked Data
dbSNP Id:
rs781741243
ExAC:
6:24302285 AG / A
gnomAD v2:
6-24302285-AG-A
gnomAD v4:
6-24302057-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24302059del , CM000668.2:g.24302059del | GRCh38 |
| NC_000006.11:g.24302287del , CM000668.1:g.24302287del | GRCh37 |
| NC_000006.10:g.24410266del | NCBI36 |
| NG_012829.1:g.60995del | |
| NG_012829.2:g.86235del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.349-14del MANE Select | ENSP00000367715.3:n.349-14del | |
| ENST00000378454.7:c.349-14del | ENSP00000367715.3:n.349-14del | |
| NM_001195610.1:c.349-14del | NP_001182539.1:n.349-14del | |
| NM_016356.4:c.349-14del | NP_057440.2:n.349-14del | |
| NM_016356.5:c.349-14del MANE Select | NP_057440.2:n.349-14del | |
| NM_001195610.2:c.349-14del | NP_001182539.1:n.349-14del |