Linked Data
dbSNP Id:
rs200680319
gnomAD v2:
11-24837542-C-CT
gnomAD v3:
11-24815996-C-CT
gnomAD v4:
11-24815996-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.24816006dup , CM000673.2:g.24816006dup | GRCh38 |
| NC_000011.9:g.24837552dup , CM000673.1:g.24837552dup | GRCh37 |
| NC_000011.8:g.24794128dup | NCBI36 |
| NG_030588.1:g.324037dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336930.11:c.396+52698dup MANE Select | ENSP00000336817.6:n.396+52698dup | |
| ENST00000336930.10:c.396+52698dup | ENSP00000336817.6:n.396+52698dup | |
| ENST00000405855.6:n.502-15898dup | ||
| ENST00000529015.5:c.396+52698dup | ENSP00000437032.1:n.396+52698dup | |
| ENST00000531187.5:n.670+52698dup | ||
| ENST00000533227.5:c.138+52698dup | ENSP00000432952.1:n.138+52698dup | |
| ENST00000620308.1:c.138+52698dup | ENSP00000480441.1:n.138+52698dup | |
| NM_001009909.3:c.396+52698dup | NP_001009909.2:n.396+52698dup | |
| NM_001252008.1:c.138+52698dup | NP_001238937.1:n.138+52698dup | |
| NM_001252010.1:c.396+52698dup | NP_001238939.1:n.396+52698dup | |
| XM_011520054.1:c.774+52698dup | XP_011518356.1:n.774+52698dup | |
| XM_011520055.1:c.774+52698dup | XP_011518357.1:n.774+52698dup | |
| XM_011520056.1:c.774+52698dup | XP_011518358.1:n.774+52698dup | |
| XM_011520057.1:c.774+52698dup | XP_011518359.1:n.774+52698dup | |
| XR_930864.1:n.1148+52698dup | ||
| XM_011520056.3:c.774+52698dup | XP_011518358.1:n.774+52698dup | |
| XM_017017648.2:c.774+52698dup | XP_016873137.2:n.774+52698dup | |
| XM_017017649.2:c.774+52698dup | XP_016873138.2:n.774+52698dup | |
| XM_024448468.1:c.774+52698dup | XP_024304236.1:n.774+52698dup | |
| XR_930864.3:n.1148+52698dup | ||
| NM_001009909.4:c.396+52698dup MANE Select | NP_001009909.2:n.396+52698dup | |
| NM_001252008.2:c.138+52698dup | NP_001238937.1:n.138+52698dup | |
| NM_001252010.2:c.396+52698dup | NP_001238939.1:n.396+52698dup |