Linked Data
ClinVar Variation Id:
2190514
ClinVar RCV Id:
RCV002628104
dbSNP Id:
rs1480443114
gnomAD v2:
10-65225349-G-A
gnomAD v3:
10-63465589-G-A
gnomAD v4:
10-63465589-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63465589G>A , CM000672.2:g.63465589G>A | GRCh38 |
| NC_000010.10:g.65225349G>A , CM000672.1:g.65225349G>A | GRCh37 |
| NC_000010.9:g.64895355G>A | NCBI36 |
| NG_053187.1:g.61487C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399262.7:c.74C>T (JMJD1C) MANE Select | ENSP00000382204.2:p.Ser25Leu | |
| ENST00000399262.6:c.74C>T (JMJD1C) | ENSP00000382204.2:p.Ser25Leu | |
| ENST00000633035.1:n.113+56149C>T (JMJD1C) | ||
| NM_032776.2:c.74C>T (JMJD1C) | NP_116165.1:p.Ser25Leu | |
| NR_027182.1:n.361G>A (JMJD1C-AS1) | ||
| NM_001318154.1:c.-379+56149C>T (JMJD1C) | NP_001305083.1:n.-379+56149C>T | |
| NM_001322252.1:c.74C>T (JMJD1C) | NP_001309181.1:p.Ser25Leu | |
| NM_001322258.1:c.-384+56149C>T (JMJD1C) | NP_001309187.1:n.-384+56149C>T | |
| XM_017015897.1:c.-265+56149C>T (JMJD1C) | XP_016871386.1:n.-265+56149C>T | |
| XM_017015899.1:c.-701+56149C>T (JMJD1C) | XP_016871388.1:n.-701+56149C>T | |
| XM_017015900.1:c.-795C>T (JMJD1C) | XP_016871389.1:n.-795C>T | |
| XM_017015901.1:c.-595+56149C>T (JMJD1C) | XP_016871390.1:n.-595+56149C>T | |
| XM_017015902.1:c.-689C>T (JMJD1C) | XP_016871391.1:n.-689C>T | |
| XM_017015903.1:c.-481+56149C>T (JMJD1C) | XP_016871392.1:n.-481+56149C>T | |
| XM_024447882.1:c.-478C>T (JMJD1C) | XP_024303650.1:n.-478C>T | |
| NM_032776.3:c.74C>T (JMJD1C) MANE Select | NP_116165.1:p.Ser25Leu | |
| NM_001318154.2:c.-379+56149C>T (JMJD1C) | NP_001305083.1:n.-379+56149C>T | |
| NM_001322252.2:c.74C>T (JMJD1C) | NP_001309181.1:p.Ser25Leu | |
| NM_001322258.2:c.-384+56149C>T (JMJD1C) | NP_001309187.1:n.-384+56149C>T |