Linked Data
dbSNP Id:
rs1183850723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459224dup , CM000668.2:g.49459224dup | GRCh38 |
| NC_000006.11:g.49426937dup , CM000668.1:g.49426937dup | GRCh37 |
| NC_000006.10:g.49534896dup | NCBI36 |
| NG_007100.1:g.8916dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.243dup MANE Select | ENSP00000274813.3:p.Pro82ThrfsTer2 | |
| ENST00000274813.3:c.243dup | ENSP00000274813.3:p.Pro82ThrfsTer2 | |
| NM_000255.3:c.243dup | NP_000246.2:p.Pro82ThrfsTer2 | |
| XM_005249143.2:c.243dup | XP_005249200.1:p.Pro82ThrfsTer2 | |
| XM_005249143.3:c.243dup | XP_005249200.1:p.Pro82ThrfsTer2 | |
| NM_000255.4:c.243dup MANE Select | NP_000246.2:p.Pro82ThrfsTer2 |