Linked Data
ClinVar Variation Id:
17810
ClinVar RCV Id:
RCV000019388
dbSNP Id:
rs137853208
gnomAD v4:
7-50504025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50504025G>A , CM000669.2:g.50504025G>A | GRCh38 |
| NC_000007.13:g.50571723G>A , CM000669.1:g.50571723G>A | GRCh37 |
| NC_000007.12:g.50539217G>A | NCBI36 |
| NG_008742.1:g.66432C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.749C>T (DDC) MANE Select | ENSP00000403644.2:p.Ser250Phe | |
| ENST00000357936.9:c.749C>T (DDC) | ENSP00000350616.5:p.Ser250Phe | |
| ENST00000380984.4:c.749C>T (DDC) | ENSP00000370371.4:p.Ser250Phe | |
| ENST00000426377.5:c.515C>T (DDC) | ENSP00000395069.1:p.Ser172Phe | |
| ENST00000430300.5:c.391C>T (DDC) | ||
| ENST00000431062.5:c.470C>T (DDC) | ENSP00000399184.1:p.Ser157Phe | |
| ENST00000444124.6:c.749C>T (DDC) | ENSP00000403644.2:p.Ser250Phe | |
| ENST00000444733.5:c.635C>T (DDC) | ENSP00000393724.1:p.Ser212Phe | |
| ENST00000613602.3:c.-11+38493C>T (FIGNL1) | ENSP00000481751.1:n.-11+38493C>T | |
| ENST00000615193.4:c.470C>T (DDC) | ENSP00000484104.1:p.Ser157Phe | |
| ENST00000617822.4:c.605C>T (DDC) | ENSP00000478385.1:p.Ser202Phe | |
| ENST00000622873.4:c.635C>T (DDC) | ENSP00000479110.1:p.Ser212Phe | |
| NM_000790.3:c.749C>T (DDC) | NP_000781.1:p.Ser250Phe | |
| NM_001082971.1:c.749C>T (DDC) | NP_001076440.1:p.Ser250Phe | |
| NM_001242886.1:c.635C>T (DDC) | NP_001229815.1:p.Ser212Phe | |
| NM_001242887.1:c.605C>T (DDC) | NP_001229816.1:p.Ser202Phe | |
| NM_001242888.1:c.515C>T (DDC) | NP_001229817.1:p.Ser172Phe | |
| NM_001242889.1:c.470C>T (DDC) | NP_001229818.1:p.Ser157Phe | |
| NM_001242890.1:c.749C>T (DDC) | NP_001229819.1:p.Ser250Phe | |
| XM_005271745.3:c.635C>T (DDC) | XP_005271802.1:p.Ser212Phe | |
| XM_011515161.1:c.398C>T (DDC) | XP_011513463.1:p.Ser133Phe | |
| XM_005271745.4:c.635C>T (DDC) | XP_005271802.1:p.Ser212Phe | |
| XM_011515161.2:c.692C>T (DDC) | XP_011513463.2:p.Ser231Phe | |
| NM_001082971.2:c.749C>T (DDC) MANE Select | NP_001076440.2:p.Ser250Phe | |
| NM_000790.4:c.749C>T (DDC) | NP_000781.2:p.Ser250Phe | |
| NM_001242888.2:c.515C>T (DDC) | NP_001229817.2:p.Ser172Phe | |
| NM_001242890.2:c.749C>T (DDC) | NP_001229819.2:p.Ser250Phe | |
| NM_001242886.2:c.635C>T (DDC) | NP_001229815.2:p.Ser212Phe | |
| NM_001242887.2:c.605C>T (DDC) | NP_001229816.2:p.Ser202Phe | |
| NM_001242889.2:c.470C>T (DDC) | NP_001229818.2:p.Ser157Phe |