Linked Data
ClinVar Variation Id:
2073591
ClinVar RCV Id:
RCV002944099
dbSNP Id:
rs750072663
ExAC:
10:65225396 C / T
gnomAD v2:
10-65225396-C-T
gnomAD v3:
10-63465636-C-T
gnomAD v4:
10-63465636-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63465636C>T , CM000672.2:g.63465636C>T | GRCh38 |
| NC_000010.10:g.65225396C>T , CM000672.1:g.65225396C>T | GRCh37 |
| NC_000010.9:g.64895402C>T | NCBI36 |
| NG_053187.1:g.61440G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399262.7:c.27G>A (JMJD1C) MANE Select | ENSP00000382204.2:p.Leu9= | |
| ENST00000399262.6:c.27G>A (JMJD1C) | ENSP00000382204.2:p.Leu9= | |
| ENST00000633035.1:n.113+56102G>A (JMJD1C) | ||
| NM_032776.2:c.27G>A (JMJD1C) | NP_116165.1:p.Leu9= | |
| NR_027182.1:n.408C>T (JMJD1C-AS1) | ||
| NM_001318154.1:c.-379+56102G>A (JMJD1C) | NP_001305083.1:n.-379+56102G>A | |
| NM_001322252.1:c.27G>A (JMJD1C) | NP_001309181.1:p.Leu9= | |
| NM_001322258.1:c.-384+56102G>A (JMJD1C) | NP_001309187.1:n.-384+56102G>A | |
| XM_017015897.1:c.-265+56102G>A (JMJD1C) | XP_016871386.1:n.-265+56102G>A | |
| XM_017015899.1:c.-701+56102G>A (JMJD1C) | XP_016871388.1:n.-701+56102G>A | |
| XM_017015900.1:c.-842G>A (JMJD1C) | XP_016871389.1:n.-842G>A | |
| XM_017015901.1:c.-595+56102G>A (JMJD1C) | XP_016871390.1:n.-595+56102G>A | |
| XM_017015902.1:c.-736G>A (JMJD1C) | XP_016871391.1:n.-736G>A | |
| XM_017015903.1:c.-481+56102G>A (JMJD1C) | XP_016871392.1:n.-481+56102G>A | |
| XM_024447882.1:c.-525G>A (JMJD1C) | XP_024303650.1:n.-525G>A | |
| NM_032776.3:c.27G>A (JMJD1C) MANE Select | NP_116165.1:p.Leu9= | |
| NM_001318154.2:c.-379+56102G>A (JMJD1C) | NP_001305083.1:n.-379+56102G>A | |
| NM_001322252.2:c.27G>A (JMJD1C) | NP_001309181.1:p.Leu9= | |
| NM_001322258.2:c.-384+56102G>A (JMJD1C) | NP_001309187.1:n.-384+56102G>A |