Linked Data
dbSNP Id:
rs994079941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436094dup , CM000678.2:g.67436094dup | GRCh38 |
| NC_000016.9:g.67469997dup , CM000678.1:g.67469997dup | GRCh37 |
| NC_000016.8:g.66027498dup | NCBI36 |
| NG_011482.1:g.50096dup | |
| NG_016549.1:g.9962dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.616dup MANE Select | ENSP00000316786.5:p.Leu206ProfsTer? | |
| ENST00000326152.5:c.616dup | ENSP00000316786.5:p.Leu206ProfsTer? | |
| ENST00000566606.1:c.594dup | ENSP00000473429.1:n.594dup | |
| ENST00000567684.2:n.479dup | ||
| NM_000196.3:c.616dup | NP_000187.3:p.Leu206ProfsTer? | |
| NM_000196.4:c.616dup MANE Select | NP_000187.3:p.Leu206ProfsTer? |