Linked Data
dbSNP Id:
rs750393483
ExAC:
11:45931682 T / TG
gnomAD v2:
11-45931682-T-TG
gnomAD v4:
11-45910131-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910132dup , CM000673.2:g.45910132dup | GRCh38 |
| NC_000011.9:g.45931683dup , CM000673.1:g.45931683dup | GRCh37 |
| NC_000011.8:g.45888259dup | NCBI36 |
| NG_008460.1:g.12992dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.*122dup MANE Select | ENSP00000368024.5:n.*122dup | |
| ENST00000241041.7:c.998dup | ENSP00000241041.3:p.Gln334ThrfsTer? | |
| NM_004813.2:c.*122dup | NP_004804.1:n.*122dup | |
| NM_057174.2:c.998dup | NP_476515.1:p.Gln334ThrfsTer? | |
| NM_004813.3:c.*122dup | NP_004804.1:n.*122dup | |
| NM_004813.4:c.*122dup MANE Select | NP_004804.2:n.*122dup | |
| NM_057174.3:c.998dup | NP_476515.2:p.Gln334ThrfsTer? |