Linked Data
dbSNP Id:
rs751863393
gnomAD v2:
6-26117018-CT-C
gnomAD v3:
6-26116790-CT-C
gnomAD v4:
6-26116790-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26116791del , CM000668.2:g.26116791del | GRCh38 |
| NC_000006.11:g.26117019del , CM000668.1:g.26117019del | GRCh37 |
| NC_000006.10:g.26224998del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707188.1:c.390+6724del (H2BC4) | ENSP00000516775.1:n.390+6724del | |
| ENST00000314332.5:c.*10-1656del (H2BC4) | ENSP00000321744.4:n.*10-1656del | |
| ENST00000629531.1:c.132+6982del (H2BC3) | ENSP00000486472.1:n.132+6982del | |
| NM_001381989.1:c.*10-1656del (H2BC4) | NP_001368918.1:n.*10-1656del |