Linked Data
dbSNP Id:
rs1944609590
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6058028_6058040dup , CM000674.2:g.6058028_6058040dup | GRCh38 |
| NC_000012.11:g.6167194_6167206dup , CM000674.1:g.6167194_6167206dup | GRCh37 |
| NC_000012.10:g.6037455_6037467dup | NCBI36 |
| NG_009072.1:g.71632_71644dup | |
| NG_009072.2:g.71632_71644dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.1539_1551dup MANE Select | ENSP00000261405.5:p.Gly518ProfsTer? | |
| ENST00000261405.9:c.1539_1551dup | ENSP00000261405.5:p.Gly518ProfsTer? | |
| ENST00000538635.5:n.420+52476_420+52488dup | ||
| NM_000552.3:c.1539_1551dup | NP_000543.2:p.Gly518ProfsTer? | |
| NM_000552.4:c.1539_1551dup | NP_000543.2:p.Gly518ProfsTer? | |
| NM_000552.5:c.1539_1551dup MANE Select | NP_000543.3:p.Gly518ProfsTer? |