Linked Data
dbSNP Id:
rs12206204
gnomAD v2:
6-26116982-C-T
gnomAD v3:
6-26116754-C-T
gnomAD v4:
6-26116754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26116754C>T , CM000668.2:g.26116754C>T | GRCh38 |
| NC_000006.11:g.26116982C>T , CM000668.1:g.26116982C>T | GRCh37 |
| NC_000006.10:g.26224961C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707188.1:c.390+6761G>A (H2BC4) | ENSP00000516775.1:n.390+6761G>A | |
| ENST00000314332.5:c.*10-1619G>A (H2BC4) | ENSP00000321744.4:n.*10-1619G>A | |
| ENST00000629531.1:c.132+7019G>A (H2BC3) | ENSP00000486472.1:n.132+7019G>A | |
| NM_001381989.1:c.*10-1619G>A (H2BC4) | NP_001368918.1:n.*10-1619G>A |