Linked Data
dbSNP Id:
rs372075997
gnomAD v2:
1-24124801-C-CTT
gnomAD v3:
1-23798311-C-CTT
gnomAD v4:
1-23798311-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798325_23798326dup , CM000663.2:g.23798325_23798326dup | GRCh38 |
| NC_000001.10:g.24124815_24124816dup , CM000663.1:g.24124815_24124816dup | GRCh37 |
| NC_000001.9:g.23997402_23997403dup | NCBI36 |
| NG_007068.1:g.7492_7493dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.238-83_238-82dup MANE Select | ENSP00000483375.1:n.238-83_238-82dup | |
| ENST00000374497.7:c.238-83_238-82dup | ENSP00000363621.3:n.238-83_238-82dup | |
| ENST00000418277.5:c.46-83_46-82dup | ENSP00000414719.1:n.46-83_46-82dup | |
| ENST00000425913.5:c.238-83_238-82dup | ENSP00000393359.1:n.238-83_238-82dup | |
| ENST00000429356.5:c.46-83_46-82dup | ENSP00000398585.1:n.46-83_46-82dup | |
| ENST00000445705.1:c.238-83_238-82dup | ENSP00000398257.1:n.238-83_238-82dup | |
| ENST00000459934.5:n.356-83_356-82dup | ||
| ENST00000467493.5:n.615_616dup | ||
| ENST00000470949.5:n.188-88_188-87dup | ||
| ENST00000481736.5:n.559_560dup | ||
| ENST00000486382.1:n.344-88_344-87dup | ||
| ENST00000617979.4:c.238-83_238-82dup | ENSP00000483375.1:n.238-83_238-82dup | |
| NM_000403.3:c.238-83_238-82dup | NP_000394.2:n.238-83_238-82dup | |
| NM_001008216.1:c.238-83_238-82dup | NP_001008217.1:n.238-83_238-82dup | |
| NM_001127621.1:c.238-83_238-82dup | NP_001121093.1:n.238-83_238-82dup | |
| NM_001008216.2:c.238-83_238-82dup MANE Select | NP_001008217.1:n.238-83_238-82dup | |
| NM_000403.4:c.238-83_238-82dup | NP_000394.2:n.238-83_238-82dup | |
| NM_001127621.2:c.238-83_238-82dup | NP_001121093.1:n.238-83_238-82dup |