Linked Data
ClinVar Variation Id:
5604
dbSNP Id:
rs397515363
ExAC:
9:34459052 G / GT
gnomAD v2:
9-34459052-G-GT
gnomAD v3:
9-34459054-G-GT
gnomAD v4:
9-34459054-G-GT
COSMIC:
COSM4588795
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34459055dup , CM000671.2:g.34459055dup | GRCh38 |
| NC_000009.11:g.34459053dup , CM000671.1:g.34459053dup | GRCh37 |
| NC_000009.10:g.34449053dup | NCBI36 |
| NG_008127.1:g.5243dup | |
| NG_027971.1:g.4516dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242317.9:c.48+2dup MANE Select | ENSP00000242317.4:n.48+2dup | |
| ENST00000242317.8:c.48+2dup | ENSP00000242317.4:n.48+2dup | |
| ENST00000437363.5:c.48+2dup | ENSP00000395396.1:n.48+2dup | |
| ENST00000470982.5:n.47+1595dup | ||
| ENST00000614641.4:c.48+2dup | ENSP00000480538.1:n.48+2dup | |
| NM_001281428.1:c.48+2dup | NP_001268357.1:n.48+2dup | |
| NM_012144.3:c.48+2dup | NP_036276.1:n.48+2dup | |
| XM_011517846.1:c.48+2dup | XP_011516148.1:n.48+2dup | |
| XM_011517847.1:c.48+2dup | XP_011516149.1:n.48+2dup | |
| XM_011517848.1:c.48+2dup | XP_011516150.1:n.48+2dup | |
| XM_011517849.1:c.48+2dup | XP_011516151.1:n.48+2dup | |
| XM_011517850.1:c.48+2dup | XP_011516152.1:n.48+2dup | |
| XR_929232.1:n.302+2dup | ||
| XR_929233.1:n.302+2dup | ||
| XR_929235.1:n.302+2dup | ||
| XM_011517846.2:c.48+2dup | XP_011516148.1:n.48+2dup | |
| XM_011517847.3:c.48+2dup | XP_011516149.1:n.48+2dup | |
| XM_011517848.2:c.48+2dup | XP_011516150.1:n.48+2dup | |
| XM_011517849.2:c.48+2dup | XP_011516151.1:n.48+2dup | |
| XM_011517850.3:c.48+2dup | XP_011516152.1:n.48+2dup | |
| XM_017014625.2:c.48+2dup | XP_016870114.1:n.48+2dup | |
| XR_002956774.1:n.249+2dup | ||
| XR_929232.2:n.249+2dup | ||
| XR_929233.2:n.249+2dup | ||
| NM_012144.4:c.48+2dup MANE Select | NP_036276.1:n.48+2dup | |
| NM_001281428.2:c.48+2dup | NP_001268357.1:n.48+2dup |