Linked Data
dbSNP Id:
rs2058978781
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869316_240869332dup , CM000664.2:g.240869316_240869332dup | GRCh38 |
| NC_000002.11:g.241808733_241808749dup , CM000664.1:g.241808733_241808749dup | GRCh37 |
| NC_000002.10:g.241457406_241457422dup | NCBI36 |
| NG_008005.1:g.5572_5588dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.312_328dup MANE Select | ENSP00000302620.3:p.Gln110ProfsTer16 | |
| ENST00000307503.3:c.312_328dup | ENSP00000302620.3:p.Gln110ProfsTer16 | |
| ENST00000472436.1:n.332_348dup | ||
| NM_000030.2:c.312_328dup | NP_000021.1:p.Gln110ProfsTer16 | |
| XR_924060.1:n.405+906_405+922dup | ||
| NM_000030.3:c.312_328dup MANE Select | NP_000021.1:p.Gln110ProfsTer16 |