Linked Data
dbSNP Id:
rs1392038632
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149978025dup , CM000667.2:g.149978025dup | GRCh38 |
| NC_000005.9:g.149357588dup , CM000667.1:g.149357588dup | GRCh37 |
| NC_000005.8:g.149337781dup | NCBI36 |
| NG_007147.2:g.19143dup , LRG_684:g.19143dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.605dup | ||
| ENST00000286298.5:c.373dup MANE Select | ENSP00000286298.4:p.Gln125ProfsTer? | |
| ENST00000286298.4:c.373dup | ENSP00000286298.4:p.Gln125ProfsTer? | |
| ENST00000503336.1:c.46dup | ENSP00000426053.1:p.Gln16ProfsTer? | |
| NM_000112.3:c.373dup , LRG_684t1:c.373dup | NP_000103.2:p.Gln125ProfsTer? | |
| XM_017009191.2:c.373dup | XP_016864680.1:p.Gln125ProfsTer? | |
| NM_000112.4:c.373dup MANE Select | NP_000103.2:p.Gln125ProfsTer? |