Linked Data
ClinVar Variation Id:
180189
ClinVar RCV Id:
RCV000157041
dbSNP Id:
rs730880331
PubMed:
PMID:25574841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37020662dup , CM000667.2:g.37020662dup | GRCh38 |
| NC_000005.9:g.37020764dup , CM000667.1:g.37020764dup | GRCh37 |
| NC_000005.8:g.37056521dup | NCBI36 |
| NG_006987.1:g.148780dup | |
| NG_006987.2:g.148780dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282516.13:c.5214dup MANE Select | ENSP00000282516.8:p.Ser1739Ter | |
| ENST00000652901.1:c.5214dup | ENSP00000499536.1:p.Ser1739Ter | |
| ENST00000282516.12:c.5214dup | ENSP00000282516.8:p.Ser1739Ter | |
| ENST00000448238.2:c.5214dup | ENSP00000406266.2:p.Ser1739Ter | |
| ENST00000621733.1:c.1-43916dup | ENSP00000480694.1:n.1-43916dup | |
| NM_015384.4:c.5214dup | NP_056199.2:p.Ser1739Ter | |
| NM_133433.3:c.5214dup | NP_597677.2:p.Ser1739Ter | |
| XM_005248280.2:c.5214dup | XP_005248337.1:p.Ser1739Ter | |
| XM_005248282.3:c.4470dup | XP_005248339.2:p.Ser1491Ter | |
| XM_006714467.2:c.5214dup | XP_006714530.1:p.Ser1739Ter | |
| XM_006714468.1:c.5016dup | XP_006714531.1:p.Ser1673Ter | |
| XM_011514014.1:c.4833dup | XP_011512316.1:p.Ser1612Ter | |
| XM_011514015.1:c.5214dup | XP_011512317.1:p.Ser1739Ter | |
| XM_005248280.3:c.5214dup | XP_005248337.1:p.Ser1739Ter | |
| XM_005248282.5:c.4554dup | XP_005248339.3:p.Ser1519Ter | |
| XM_006714468.2:c.5016dup | XP_006714531.1:p.Ser1673Ter | |
| XM_017009329.1:c.5214dup | XP_016864818.1:p.Ser1739Ter | |
| XM_017009330.2:c.3597dup | XP_016864819.1:p.Ser1200Ter | |
| XM_017009331.1:c.3588dup | XP_016864820.1:p.Ser1197Ter | |
| NM_133433.4:c.5214dup MANE Select | NP_597677.2:p.Ser1739Ter | |
| NM_015384.5:c.5214dup | NP_056199.2:p.Ser1739Ter |