Linked Data
ClinVar Variation Id:
2195
ClinVar RCV Id:
RCV000002279
dbSNP Id:
rs398122997
PubMed:
PMID:12393799
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.101644222dup , CM000670.2:g.101644222dup | GRCh38 |
| NC_000008.10:g.102656450dup , CM000670.1:g.102656450dup | GRCh37 |
| NC_000008.9:g.102725626dup | NCBI36 |
| NG_011971.1:g.156783dup | |
| NG_011971.2:g.156783dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646743.1:c.1609dup MANE Select | ENSP00000495564.1:p.Arg537ProfsTer11 | |
| ENST00000251808.7:c.1609dup | ENSP00000251808.3:p.Arg537ProfsTer11 | |
| ENST00000395927.1:c.1561dup | ENSP00000379260.1:p.Arg521ProfsTer11 | |
| ENST00000474338.1:n.251dup | ||
| ENST00000517674.5:n.264dup | ||
| NM_024915.3:c.1609dup | NP_079191.2:p.Arg537ProfsTer11 | |
| XM_011517305.1:c.1561dup | XP_011515607.1:p.Arg521ProfsTer11 | |
| XM_011517306.1:c.1561dup | XP_011515608.1:p.Arg521ProfsTer11 | |
| XM_011517307.1:c.1609dup | XP_011515609.1:p.Arg537ProfsTer11 | |
| NM_001330593.1:c.1561dup | NP_001317522.1:p.Arg521ProfsTer11 | |
| XM_011517306.3:c.1561dup | XP_011515608.1:p.Arg521ProfsTer11 | |
| XM_011517307.3:c.1609dup | XP_011515609.1:p.Arg537ProfsTer11 | |
| NM_001330593.2:c.1561dup | NP_001317522.1:p.Arg521ProfsTer11 | |
| NM_024915.4:c.1609dup MANE Select | NP_079191.2:p.Arg537ProfsTer11 |