Linked Data
ClinVar Variation Id:
1003906
ClinVar RCV Id:
RCV001300528
dbSNP Id:
rs765528980
ExAC:
10:65225262 T / G
gnomAD v2:
10-65225262-T-G
gnomAD v3:
10-63465502-T-G
gnomAD v4:
10-63465502-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.63465502T>G , CM000672.2:g.63465502T>G | GRCh38 |
| NC_000010.10:g.65225262T>G , CM000672.1:g.65225262T>G | GRCh37 |
| NC_000010.9:g.64895268T>G | NCBI36 |
| NG_053187.1:g.61574A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399262.7:c.161A>C (JMJD1C) MANE Select | ENSP00000382204.2:p.Asp54Ala | |
| ENST00000399262.6:c.161A>C (JMJD1C) | ENSP00000382204.2:p.Asp54Ala | |
| ENST00000633035.1:n.113+56236A>C (JMJD1C) | ||
| NM_032776.2:c.161A>C (JMJD1C) | NP_116165.1:p.Asp54Ala | |
| NR_027182.1:n.274T>G (JMJD1C-AS1) | ||
| NM_001318154.1:c.-379+56236A>C (JMJD1C) | NP_001305083.1:n.-379+56236A>C | |
| NM_001322252.1:c.161A>C (JMJD1C) | NP_001309181.1:p.Asp54Ala | |
| NM_001322258.1:c.-384+56236A>C (JMJD1C) | NP_001309187.1:n.-384+56236A>C | |
| XM_017015897.1:c.-265+56236A>C (JMJD1C) | XP_016871386.1:n.-265+56236A>C | |
| XM_017015899.1:c.-701+56236A>C (JMJD1C) | XP_016871388.1:n.-701+56236A>C | |
| XM_017015900.1:c.-708A>C (JMJD1C) | XP_016871389.1:n.-708A>C | |
| XM_017015901.1:c.-595+56236A>C (JMJD1C) | XP_016871390.1:n.-595+56236A>C | |
| XM_017015902.1:c.-602A>C (JMJD1C) | XP_016871391.1:n.-602A>C | |
| XM_017015903.1:c.-481+56236A>C (JMJD1C) | XP_016871392.1:n.-481+56236A>C | |
| XM_024447882.1:c.-391A>C (JMJD1C) | XP_024303650.1:n.-391A>C | |
| NM_032776.3:c.161A>C (JMJD1C) MANE Select | NP_116165.1:p.Asp54Ala | |
| NM_001318154.2:c.-379+56236A>C (JMJD1C) | NP_001305083.1:n.-379+56236A>C | |
| NM_001322252.2:c.161A>C (JMJD1C) | NP_001309181.1:p.Asp54Ala | |
| NM_001322258.2:c.-384+56236A>C (JMJD1C) | NP_001309187.1:n.-384+56236A>C |