Linked Data
dbSNP Id:
rs11381416
gnomAD v2:
9-137324061-G-GA
gnomAD v3:
9-134432215-G-GA
gnomAD v4:
9-134432215-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134432216dup , CM000671.2:g.134432216dup | GRCh38 |
| NC_000009.11:g.137324062dup , CM000671.1:g.137324062dup | GRCh37 |
| NC_000009.10:g.136463883dup | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000481739.2:c.1135+220dup MANE Select | ENSP00000419692.1:n.1135+220dup | |
| ENST00000672570.1:c.1054+220dup | ENSP00000500402.1:n.1054+220dup | |
| ENST00000356384.4:n.1545+220dup | ||
| ENST00000481739.1:c.1135+220dup | ENSP00000419692.1:n.1135+220dup | |
| NM_001291920.1:c.1054+220dup | NP_001278849.1:n.1054+220dup | |
| NM_001291921.1:c.844+220dup | NP_001278850.1:n.844+220dup | |
| NM_002957.5:c.1135+220dup | NP_002948.1:n.1135+220dup | |
| NM_002957.6:c.1135+220dup MANE Select | NP_002948.1:n.1135+220dup | |
| NM_001291921.2:c.844+220dup | NP_001278850.1:n.844+220dup | |
| NM_001291920.2:c.1054+220dup | NP_001278849.1:n.1054+220dup |