Linked Data
dbSNP Id:
rs765302927
gnomAD v2:
8-37622960-T-TC
gnomAD v3:
8-37765442-T-TC
gnomAD v4:
8-37765442-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37765443dup , CM000670.2:g.37765443dup | GRCh38 |
| NC_000008.10:g.37622961dup , CM000670.1:g.37622961dup | GRCh37 |
| NC_000008.9:g.37742119dup | NCBI36 |
| NG_053030.1:g.8691dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.100-83dup MANE Select | ENSP00000333551.3:n.100-83dup | |
| ENST00000328195.7:c.100-83dup | ENSP00000333551.3:n.100-83dup | |
| ENST00000518036.5:c.100-83dup | ENSP00000428005.1:n.100-83dup | |
| ENST00000520073.5:n.165-83dup | ||
| ENST00000523187.5:c.-57-83dup | ENSP00000427886.1:n.-57-83dup | |
| ENST00000523358.5:c.100-83dup | ENSP00000427778.1:n.100-83dup | |
| ENST00000523994.1:n.105-83dup | ||
| NM_007198.3:c.100-83dup | NP_009129.1:n.100-83dup | |
| NM_001349346.1:c.100-83dup | NP_001336275.1:n.100-83dup | |
| NM_001349347.1:c.100-83dup | NP_001336276.1:n.100-83dup | |
| NM_001349348.1:c.-57-83dup | NP_001336277.1:n.-57-83dup | |
| NM_001349349.1:c.205-83dup | NP_001336278.1:n.205-83dup | |
| NM_007198.4:c.100-83dup MANE Select | NP_009129.1:n.100-83dup | |
| NM_001349346.2:c.100-83dup | NP_001336275.1:n.100-83dup | |
| NM_001349347.2:c.100-83dup | NP_001336276.1:n.100-83dup | |
| NM_001349348.2:c.-57-83dup | NP_001336277.1:n.-57-83dup |