Linked Data
dbSNP Id:
rs1419333031
gnomAD v2:
9-98997596-C-CA
gnomAD v3:
9-96235314-C-CA
gnomAD v4:
9-96235314-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96235320dup , CM000671.2:g.96235320dup | GRCh38 |
| NC_000009.11:g.98997602dup , CM000671.1:g.98997602dup | GRCh37 |
| NC_000009.10:g.98037423dup | NCBI36 |
| NG_008157.1:g.71838dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375263.8:c.*145dup MANE Select | ENSP00000364412.3:n.*145dup | |
| ENST00000467499.6:c.*777dup | ENSP00000498077.1:n.*777dup | |
| ENST00000494814.6:n.628dup | ||
| ENST00000375262.3:c.*145dup | ENSP00000364411.2:n.*145dup | |
| ENST00000375263.7:c.*145dup | ENSP00000364412.3:n.*145dup | |
| ENST00000464104.5:n.931dup | ||
| ENST00000467499.5:n.338dup | ||
| ENST00000494814.5:n.637dup | ||
| NM_000197.1:c.*145dup | NP_000188.1:n.*145dup | |
| XM_005251970.3:c.*145dup | XP_005252027.1:n.*145dup | |
| XM_011518618.1:c.*145dup | XP_011516920.1:n.*145dup | |
| XM_011518619.1:c.*145dup | XP_011516921.1:n.*145dup | |
| XM_011518620.1:c.*145dup | XP_011516922.1:n.*145dup | |
| NM_000197.2:c.*145dup MANE Select | NP_000188.1:n.*145dup | |
| XM_011518618.2:c.*145dup | XP_011516920.1:n.*145dup | |
| XM_011518619.2:c.*145dup | XP_011516921.1:n.*145dup | |
| XM_017014671.1:c.*145dup | XP_016870160.1:n.*145dup | |
| XM_017014672.1:c.*145dup | XP_016870161.1:n.*145dup | |
| XM_017014673.2:c.*145dup | XP_016870162.1:n.*145dup | |
| XM_017014674.1:c.*145dup | XP_016870163.1:n.*145dup | |
| XM_017014675.1:c.*145dup | XP_016870164.1:n.*145dup | |
| XM_017014677.1:c.*145dup | XP_016870166.1:n.*145dup | |
| XM_024447529.1:c.*145dup | XP_024303297.1:n.*145dup | |
| XR_002956778.1:n.3550dup |