Linked Data
dbSNP Id:
rs761416300
ExAC:
4:81207563 G / GA
gnomAD v2:
4-81207563-G-GA
gnomAD v4:
4-80286409-G-GA
COSMIC:
COSM1431303
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80286415dup , CM000666.2:g.80286415dup | GRCh38 |
| NC_000004.11:g.81207569dup , CM000666.1:g.81207569dup | GRCh37 |
| NC_000004.10:g.81426593dup | NCBI36 |
| NG_029501.1:g.24828dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312465.12:c.550dup MANE Select | ENSP00000311697.7:p.Thr184AsnfsTer11 | |
| ENST00000312465.11:c.550dup | ENSP00000311697.7:p.Thr184AsnfsTer11 | |
| ENST00000456523.3:c.*74dup | ENSP00000398353.3:n.*74dup | |
| ENST00000503413.1:n.499dup | ||
| ENST00000507780.1:c.342+11403dup | ENSP00000423903.1:n.342+11403dup | |
| NM_001291812.1:c.121dup | NP_001278741.1:p.Thr41AsnfsTer11 | |
| NM_004464.3:c.550dup | NP_004455.2:p.Thr184AsnfsTer11 | |
| NM_033143.2:c.*74dup | NP_149134.1:n.*74dup | |
| NM_001291812.2:c.121dup | NP_001278741.1:p.Thr41AsnfsTer11 | |
| NM_004464.4:c.550dup MANE Select | NP_004455.2:p.Thr184AsnfsTer11 |