Linked Data
dbSNP Id:
rs985755619
gnomAD v2:
8-19818344-GA-G
gnomAD v3:
8-19960833-GA-G
gnomAD v4:
8-19960833-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19960841del , CM000670.2:g.19960841del | GRCh38 |
| NC_000008.10:g.19818352del , CM000670.1:g.19818352del | GRCh37 |
| NC_000008.9:g.19862632del | NCBI36 |
| NG_008855.1:g.26771del | |
| NG_008855.2:g.64125del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.1140-60del MANE Select | ENSP00000497642.1:n.1140-60del | |
| ENST00000650478.1:c.80-60del | ENSP00000497560.1:n.80-60del | |
| ENST00000311322.8:c.1140-60del | ENSP00000309757.6:n.1140-60del | |
| NM_000237.2:c.1140-60del | NP_000228.1:n.1140-60del | |
| NM_000237.3:c.1140-60del MANE Select | NP_000228.1:n.1140-60del |