Linked Data
dbSNP Id:
rs1198126145
gnomAD v2:
11-44297177-T-TA
gnomAD v3:
11-44275627-T-TA
gnomAD v4:
11-44275627-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.44275629dup , CM000673.2:g.44275629dup | GRCh38 |
| NC_000011.9:g.44297179dup , CM000673.1:g.44297179dup | GRCh37 |
| NC_000011.8:g.44253755dup | NCBI36 |
| NG_015809.1:g.39539dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652299.1:c.497dup MANE Select | ENSP00000498217.1:p.Leu166PhefsTer4 | |
| ENST00000329255.3:c.497dup | ENSP00000332744.3:p.Leu166PhefsTer4 | |
| NM_021926.3:c.497dup | NP_068745.2:p.Leu166PhefsTer4 | |
| XM_011520264.1:c.497dup | XP_011518566.1:p.Leu166PhefsTer4 | |
| XM_011520265.1:c.-26dup | XP_011518567.1:n.-26dup | |
| XM_011520266.1:c.-26dup | XP_011518568.1:n.-26dup | |
| NM_021926.4:c.497dup MANE Select | NP_068745.2:p.Leu166PhefsTer4 |