Linked Data
ClinVar Variation Id:
446458
ClinVar RCV Id:
RCV000515662
dbSNP Id:
rs1554362735
PubMed:
PMID:24105851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107710070_107710074dup , CM000669.2:g.107710070_107710074dup | GRCh38 |
| NC_000007.13:g.107350515_107350519dup , CM000669.1:g.107350515_107350519dup | GRCh37 |
| NC_000007.12:g.107137751_107137755dup | NCBI36 |
| NG_008489.1:g.54436_54440dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2106_2110dup MANE Select | ENSP00000494017.1:p.Glu704GlyfsTer19 | |
| ENST00000644846.1:c.762_766dup | ||
| ENST00000265715.7:c.2106_2110dup | ENSP00000265715.3:p.Glu704GlyfsTer19 | |
| ENST00000492030.2:n.377-85_377-81dup | ||
| NM_000441.1:c.2106_2110dup | NP_000432.1:p.Glu704GlyfsTer19 | |
| XM_005250425.1:c.2106_2110dup | XP_005250482.1:p.Glu704GlyfsTer19 | |
| XM_005250425.2:c.2106_2110dup | XP_005250482.1:p.Glu704GlyfsTer19 | |
| XM_017012318.1:c.2028_2032dup | XP_016867807.1:p.Glu678GlyfsTer19 | |
| NM_000441.2:c.2106_2110dup MANE Select | NP_000432.1:p.Glu704GlyfsTer19 |