Linked Data
dbSNP Id:
rs1330730091
gnomAD v2:
6-26117011-T-C
gnomAD v3:
6-26116783-T-C
gnomAD v4:
6-26116783-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.26116783T>C , CM000668.2:g.26116783T>C | GRCh38 |
| NC_000006.11:g.26117011T>C , CM000668.1:g.26117011T>C | GRCh37 |
| NC_000006.10:g.26224990T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707188.1:c.390+6732A>G (H2BC4) | ENSP00000516775.1:n.390+6732A>G | |
| ENST00000314332.5:c.*10-1648A>G (H2BC4) | ENSP00000321744.4:n.*10-1648A>G | |
| ENST00000629531.1:c.132+6990A>G (H2BC3) | ENSP00000486472.1:n.132+6990A>G | |
| NM_001381989.1:c.*10-1648A>G (H2BC4) | NP_001368918.1:n.*10-1648A>G |