Linked Data
dbSNP Id:
rs1008755751
gnomAD v2:
4-187195748-T-TA
gnomAD v3:
4-186274594-T-TA
gnomAD v4:
4-186274594-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186274600dup , CM000666.2:g.186274600dup | GRCh38 |
| NC_000004.11:g.187195754dup , CM000666.1:g.187195754dup | GRCh37 |
| NC_000004.10:g.187432748dup | NCBI36 |
| NG_008051.1:g.13637dup , LRG_583:g.13637dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403665.7:c.485+325dup MANE Select | ENSP00000384957.2:n.485+325dup | |
| ENST00000264692.8:c.324-1187dup | ENSP00000264692.5:n.324-1187dup | |
| ENST00000403665.6:c.485+325dup | ENSP00000384957.2:n.485+325dup | |
| ENST00000492972.6:c.*321dup | ENSP00000424479.1:n.*321dup | |
| ENST00000514715.1:n.682dup | ||
| NM_000128.3:c.485+325dup , LRG_583t1:c.485+325dup | NP_000119.1:n.485+325dup | |
| XM_005262821.2:c.485+325dup | XP_005262878.1:n.485+325dup | |
| XM_005262822.2:c.485+325dup | XP_005262879.1:n.485+325dup | |
| XM_005262823.2:c.485+325dup | XP_005262880.1:n.485+325dup | |
| XM_005262824.1:c.485+325dup | XP_005262881.1:n.485+325dup | |
| XM_006714137.1:c.485+325dup | XP_006714200.1:n.485+325dup | |
| XR_938706.1:n.837+325dup | ||
| XR_938707.1:n.837+325dup | ||
| NM_001354804.1:c.*321dup | NP_001341733.1:n.*321dup | |
| XM_005262821.4:c.485+325dup | XP_005262878.1:n.485+325dup | |
| XM_005262822.4:c.485+325dup | XP_005262879.1:n.485+325dup | |
| XM_005262823.4:c.485+325dup | XP_005262880.1:n.485+325dup | |
| XM_006714137.3:c.485+325dup | XP_006714200.1:n.485+325dup | |
| XM_017007884.2:c.485+325dup | XP_016863373.1:n.485+325dup | |
| XM_017007885.2:c.485+325dup | XP_016863374.1:n.485+325dup | |
| XM_017007886.2:c.485+325dup | XP_016863375.1:n.485+325dup | |
| XR_001741172.2:n.818+325dup | ||
| NM_000128.4:c.485+325dup MANE Select | NP_000119.1:n.485+325dup | |
| NM_001354804.2:c.*321dup | NP_001341733.1:n.*321dup |