Linked Data
ClinVar Variation Id:
191358
ClinVar RCV Id:
RCV000201458
dbSNP Id:
rs863223342
PubMed:
PMID:26497376
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197421287dup , CM000663.2:g.197421287dup | GRCh38 |
| NC_000001.10:g.197390417dup , CM000663.1:g.197390417dup | GRCh37 |
| NC_000001.9:g.195657040dup | NCBI36 |
| NG_008483.1:g.158010dup | |
| NG_008483.2:g.224826dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.1459dup MANE Select | ENSP00000356370.3:p.Ser487PhefsTer3 | |
| ENST00000638467.1:c.1459dup | ENSP00000491102.1:p.Ser487PhefsTer3 | |
| ENST00000681519.1:c.340dup | ENSP00000505267.1:p.Ser114PhefsTer3 | |
| ENST00000367397.1:c.-399dup | ENSP00000356367.1:n.-399dup | |
| ENST00000367399.6:c.1123dup | ENSP00000356369.2:p.Ser375PhefsTer3 | |
| ENST00000367400.7:c.1459dup | ENSP00000356370.3:p.Ser487PhefsTer3 | |
| ENST00000476483.1:n.419dup | ||
| ENST00000484075.5:c.1459dup | ENSP00000433932.1:p.Ser487PhefsTer3 | |
| ENST00000535699.5:c.1252dup | ENSP00000438786.1:p.Ser418PhefsTer3 | |
| ENST00000538660.5:c.1459dup | ENSP00000438091.1:p.Ser487PhefsTer3 | |
| NM_001193640.1:c.1123dup | NP_001180569.1:p.Ser375PhefsTer3 | |
| NM_001257965.1:c.1252dup | NP_001244894.1:p.Ser418PhefsTer3 | |
| NM_001257966.1:c.1459dup | NP_001244895.1:p.Ser487PhefsTer3 | |
| NM_201253.2:c.1459dup | NP_957705.1:p.Ser487PhefsTer3 | |
| NR_047563.1:n.1668dup | ||
| NR_047564.1:n.1668dup | ||
| XM_011509365.1:c.1459dup | XP_011507667.1:p.Ser487PhefsTer3 | |
| XM_011509366.1:c.1459dup | XP_011507668.1:p.Ser487PhefsTer3 | |
| XM_011509367.1:c.1459dup | XP_011507669.1:p.Ser487PhefsTer3 | |
| XM_011509368.1:c.877dup | XP_011507670.1:p.Ser293PhefsTer3 | |
| XM_011509369.1:c.-99dup | XP_011507671.1:n.-99dup | |
| XM_011509365.2:c.1459dup | XP_011507667.1:p.Ser487PhefsTer3 | |
| XM_011509369.2:c.-99dup | XP_011507671.1:n.-99dup | |
| XM_017000851.1:c.616dup | XP_016856340.1:p.Ser206PhefsTer3 | |
| XM_017000852.1:c.1459dup | XP_016856341.1:p.Ser487PhefsTer3 | |
| NM_201253.3:c.1459dup MANE Select | NP_957705.1:p.Ser487PhefsTer3 | |
| NM_001193640.2:c.1123dup | NP_001180569.1:p.Ser375PhefsTer3 | |
| NM_001257965.2:c.1252dup | NP_001244894.1:p.Ser418PhefsTer3 | |
| NR_047563.2:n.1620dup | ||
| NR_047564.2:n.1620dup | ||
| NM_001257966.2:c.1459dup | NP_001244895.1:p.Ser487PhefsTer3 |