Linked Data
dbSNP Id:
rs947512967
gnomAD v2:
19-17954049-A-AC
gnomAD v3:
19-17843240-A-AC
gnomAD v4:
19-17843240-A-AC
COSMIC:
COSN20060526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17843247dup , CM000681.2:g.17843247dup | GRCh38 |
| NC_000019.9:g.17954056dup , CM000681.1:g.17954056dup | GRCh37 |
| NC_000019.8:g.17815056dup | NCBI36 |
| NG_007273.1:g.9751dup , LRG_77:g.9751dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.421-69dup | ENSP00000513006.1:n.421-69dup | |
| ENST00000458235.7:c.421-69dup MANE Select | ENSP00000391676.1:n.421-69dup | |
| ENST00000458235.5:c.421-69dup | ENSP00000391676.1:n.421-69dup | |
| ENST00000526008.5:n.521-69dup | ||
| ENST00000527031.5:n.511-69dup | ||
| ENST00000527670.5:c.421-69dup | ENSP00000432511.1:n.421-69dup | |
| ENST00000528293.1:n.436-69dup | ||
| ENST00000534444.1:c.421-69dup | ENSP00000436421.1:n.421-69dup | |
| NM_000215.3:c.421-69dup , LRG_77t1:c.421-69dup | NP_000206.2:n.421-69dup | |
| XM_005259896.2:c.550-69dup | XP_005259953.1:n.550-69dup | |
| XM_006722745.2:c.421-69dup | XP_006722808.1:n.421-69dup | |
| XM_011527990.1:c.550-69dup | XP_011526292.1:n.550-69dup | |
| XM_011527991.1:c.550-69dup | XP_011526293.1:n.550-69dup | |
| XR_430137.2:n.560-69dup | ||
| XM_005259896.3:c.550-69dup | XP_005259953.1:n.550-69dup | |
| XM_011527991.2:c.550-69dup | XP_011526293.1:n.550-69dup | |
| NM_000215.4:c.421-69dup MANE Select | NP_000206.2:n.421-69dup |