Linked Data
dbSNP Id:
rs757146398
ExAC:
4:187115727 A / AG
gnomAD v2:
4-187115727-A-AG
gnomAD v4:
4-186194573-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186194574dup , CM000666.2:g.186194574dup | GRCh38 |
| NC_000004.11:g.187115728dup , CM000666.1:g.187115728dup | GRCh37 |
| NC_000004.10:g.187352722dup | NCBI36 |
| NG_007965.1:g.8055dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.289dup MANE Select | ENSP00000368079.4:p.Val97GlyfsTer8 | |
| ENST00000378802.4:c.289dup | ENSP00000368079.4:p.Val97GlyfsTer8 | |
| NM_207352.3:c.289dup | NP_997235.3:p.Val97GlyfsTer8 | |
| XM_005262935.2:c.289dup | XP_005262992.1:p.Val97GlyfsTer8 | |
| XM_006714184.2:c.-22dup | XP_006714247.1:n.-22dup | |
| XM_005262935.4:c.289dup | XP_005262992.1:p.Val97GlyfsTer8 | |
| XM_017008037.1:c.-22dup | XP_016863526.1:n.-22dup | |
| NM_207352.4:c.289dup MANE Select | NP_997235.3:p.Val97GlyfsTer8 |