Linked Data
dbSNP Id:
rs2101051561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043449_94043452dup , CM000663.2:g.94043449_94043452dup | GRCh38 |
| NC_000001.10:g.94509005_94509008dup , CM000663.1:g.94509005_94509008dup | GRCh37 |
| NC_000001.9:g.94281593_94281596dup | NCBI36 |
| NG_009073.1:g.82698_82701dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3074_3077dup MANE Select | ENSP00000359245.3:p.Tyr1027ValfsTer? | |
| ENST00000370225.3:c.3074_3077dup | ENSP00000359245.3:p.Tyr1027ValfsTer? | |
| ENST00000536513.5:c.-64-3363_-64-3360dup | ENSP00000439707.2:n.-64-3363_-64-3360dup | |
| NM_000350.2:c.3074_3077dup | NP_000341.2:p.Tyr1027ValfsTer? | |
| NM_000350.3:c.3074_3077dup MANE Select | NP_000341.2:p.Tyr1027ValfsTer? |