Linked Data
dbSNP Id:
rs762869822
ExAC:
1:24122986 C / CG
gnomAD v2:
1-24122986-C-CG
gnomAD v3:
1-23796496-C-CG
gnomAD v4:
1-23796496-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796503dup , CM000663.2:g.23796503dup | GRCh38 |
| NC_000001.10:g.24122993dup , CM000663.1:g.24122993dup | GRCh37 |
| NC_000001.9:g.23995580dup | NCBI36 |
| NG_007068.1:g.9308dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.873+12dup MANE Select | ENSP00000483375.1:n.873+12dup | |
| ENST00000374497.7:c.873+12dup | ENSP00000363621.3:n.873+12dup | |
| ENST00000429356.5:c.603+200dup | ENSP00000398585.1:n.603+200dup | |
| ENST00000456977.5:c.153+200dup | ENSP00000397045.1:n.153+200dup | |
| ENST00000459934.5:n.1101+12dup | ||
| ENST00000469556.1:n.389dup | ||
| ENST00000481736.5:n.1277+12dup | ||
| ENST00000617979.4:c.873+12dup | ENSP00000483375.1:n.873+12dup | |
| NM_000403.3:c.873+12dup | NP_000394.2:n.873+12dup | |
| NM_001008216.1:c.873+12dup | NP_001008217.1:n.873+12dup | |
| NM_001127621.1:c.873+12dup | NP_001121093.1:n.873+12dup | |
| NM_001008216.2:c.873+12dup MANE Select | NP_001008217.1:n.873+12dup | |
| NM_000403.4:c.873+12dup | NP_000394.2:n.873+12dup | |
| NM_001127621.2:c.873+12dup | NP_001121093.1:n.873+12dup |