Linked Data
dbSNP Id:
rs1941484582
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52675404_52675418dup , CM000674.2:g.52675404_52675418dup | GRCh38 |
| NC_000012.11:g.53069188_53069202dup , CM000674.1:g.53069188_53069202dup | GRCh37 |
| NC_000012.10:g.51355455_51355469dup | NCBI36 |
| NG_008364.1:g.9994_10008dup | |
| NG_008364.2:g.9994_10008dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1714_1728dup MANE Select | ENSP00000252244.3:p.Gly576_Ser577insGlyGlyGlyHisGly | |
| NM_006121.3:c.1714_1728dup | NP_006112.3:p.Gly576_Ser577insGlyGlyGlyHisGly | |
| NM_006121.4:c.1714_1728dup MANE Select | NP_006112.3:p.Gly576_Ser577insGlyGlyGlyHisGly |