Linked Data
dbSNP Id:
rs751121794
ExAC:
8:77895643 C / CTA
gnomAD v2:
8-77895643-C-CTA
gnomAD v4:
8-76983407-C-CTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983409_76983410dup , CM000670.2:g.76983409_76983410dup | GRCh38 |
| NC_000008.10:g.77895645_77895646dup , CM000670.1:g.77895645_77895646dup | GRCh37 |
| NC_000008.9:g.78058200_78058201dup | NCBI36 |
| NG_008371.1:g.21880_21881dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357039.9:c.770_771dup MANE Select | ENSP00000349543.4:p.Gly258Ter | |
| ENST00000357039.8:c.770_771dup | ENSP00000349543.4:p.Gly258Ter | |
| ENST00000520103.5:c.770_771dup | ENSP00000428590.1:p.Gly258Ter | |
| ENST00000522527.5:c.770_771dup | ENSP00000428638.1:p.Gly258Ter | |
| NM_000318.2:c.770_771dup | NP_000309.1:p.Gly258Ter | |
| NM_001079867.1:c.770_771dup | NP_001073336.1:p.Gly258Ter | |
| NM_001172086.1:c.770_771dup | NP_001165557.1:p.Gly258Ter | |
| NM_001172087.1:c.770_771dup | NP_001165558.1:p.Gly258Ter | |
| NM_000318.3:c.770_771dup MANE Select | NP_000309.2:p.Gly258Ter | |
| NM_001079867.2:c.770_771dup | NP_001073336.2:p.Gly258Ter | |
| NM_001172086.2:c.770_771dup | NP_001165557.2:p.Gly258Ter | |
| NM_001172087.2:c.770_771dup | NP_001165558.2:p.Gly258Ter |