Linked Data
ClinVar Variation Id:
224978
ClinVar RCV Id:
RCV000210546
dbSNP Id:
rs869312993
PubMed:
PMID:12384776
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66092065dup , CM000669.2:g.66092065dup | GRCh38 |
| NC_000007.13:g.65557052dup , CM000669.1:g.65557052dup | GRCh37 |
| NC_000007.12:g.65194487dup | NCBI36 |
| NG_009288.1:g.21277dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304874.14:c.1122dup MANE Select | ENSP00000307188.9:p.Tyr375LeufsTer? | |
| ENST00000362000.10:c.927dup | ENSP00000354710.6:p.Tyr310LeufsTer? | |
| ENST00000380839.9:c.1044dup | ENSP00000370219.4:p.Tyr349LeufsTer? | |
| ENST00000395331.4:c.1062dup | ENSP00000378740.3:p.Tyr355LeufsTer? | |
| ENST00000395332.8:c.1122dup | ENSP00000378741.3:p.Tyr375LeufsTer? | |
| ENST00000488343.2:c.148-839dup | ENSP00000500864.1:n.148-839dup | |
| ENST00000672498.1:c.*421dup | ENSP00000500227.1:n.*421dup | |
| ENST00000672586.1:n.1881dup | ||
| ENST00000672676.1:n.2146dup | ||
| ENST00000673149.1:n.934dup | ||
| ENST00000673350.1:n.3239dup | ||
| ENST00000673518.1:c.1044dup | ENSP00000499889.1:p.Tyr349LeufsTer? | |
| ENST00000304874.13:c.1122dup | ENSP00000307188.9:p.Tyr375LeufsTer? | |
| ENST00000380839.8:c.1044dup | ENSP00000370219.4:p.Tyr349LeufsTer? | |
| ENST00000395331.3:c.1062dup | ENSP00000378740.3:p.Tyr355LeufsTer? | |
| ENST00000395332.7:c.1122dup | ENSP00000378741.3:p.Tyr375LeufsTer? | |
| ENST00000450043.2:c.435dup | ENSP00000396527.2:p.Tyr146LeufsTer? | |
| ENST00000464970.1:n.325dup | ||
| ENST00000488343.1:n.148-839dup | ||
| ENST00000493708.5:n.603dup | ||
| NM_000048.3:c.1122dup | NP_000039.2:p.Tyr375LeufsTer? | |
| NM_001024943.1:c.1122dup | NP_001020114.1:p.Tyr375LeufsTer? | |
| NM_001024944.1:c.1062dup | NP_001020115.1:p.Tyr355LeufsTer? | |
| NM_001024946.1:c.1044dup | NP_001020117.1:p.Tyr349LeufsTer? | |
| NM_000048.4:c.1122dup MANE Select | NP_000039.2:p.Tyr375LeufsTer? | |
| NM_001024943.2:c.1122dup | NP_001020114.1:p.Tyr375LeufsTer? | |
| NM_001024944.2:c.1062dup | NP_001020115.1:p.Tyr355LeufsTer? | |
| NM_001024946.2:c.1044dup | NP_001020117.1:p.Tyr349LeufsTer? |