Linked Data
dbSNP Id:
rs746605452
ExAC:
8:18258292 A / AG
gnomAD v2:
8-18258292-A-AG
gnomAD v4:
8-18400782-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400784dup , CM000670.2:g.18400784dup | GRCh38 |
| NC_000008.10:g.18258294dup , CM000670.1:g.18258294dup | GRCh37 |
| NC_000008.9:g.18302574dup | NCBI36 |
| NG_012246.1:g.14540dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.781dup MANE Select | ENSP00000286479.3:p.Glu261GlyfsTer4 | |
| ENST00000286479.3:c.781dup | ENSP00000286479.3:p.Glu261GlyfsTer4 | |
| ENST00000520116.1:c.391dup | ENSP00000428416.1:p.Glu131GlyfsTer4 | |
| NM_000015.2:c.781dup | NP_000006.2:p.Glu261GlyfsTer4 | |
| XM_011544358.1:c.781dup | XP_011542660.1:p.Glu261GlyfsTer4 | |
| XM_017012938.1:c.781dup | XP_016868427.1:p.Glu261GlyfsTer4 | |
| NM_000015.3:c.781dup MANE Select | NP_000006.2:p.Glu261GlyfsTer4 |