Linked Data
dbSNP Id:
rs765426663
ExAC:
7:50563073 C / G
gnomAD v2:
7-50563073-C-G
gnomAD v3:
7-50495375-C-G
gnomAD v4:
7-50495375-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50495375C>G , CM000669.2:g.50495375C>G | GRCh38 |
| NC_000007.13:g.50563073C>G , CM000669.1:g.50563073C>G | GRCh37 |
| NC_000007.12:g.50530567C>G | NCBI36 |
| NG_008742.1:g.75082G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.919G>C (DDC) MANE Select | ENSP00000403644.2:p.Val307Leu | |
| ENST00000357936.9:c.919G>C (DDC) | ENSP00000350616.5:p.Val307Leu | |
| ENST00000380984.4:c.919G>C (DDC) | ENSP00000370371.4:p.Val307Leu | |
| ENST00000426377.5:c.685G>C (DDC) | ENSP00000395069.1:p.Val229Leu | |
| ENST00000430300.5:c.561G>C (DDC) | ||
| ENST00000431062.5:c.640G>C (DDC) | ENSP00000399184.1:p.Val214Leu | |
| ENST00000444124.6:c.919G>C (DDC) | ENSP00000403644.2:p.Val307Leu | |
| ENST00000444733.5:c.*20G>C (DDC) | ENSP00000393724.1:n.*20G>C | |
| ENST00000613602.3:c.-11+47143G>C (FIGNL1) | ENSP00000481751.1:n.-11+47143G>C | |
| ENST00000615193.4:c.640G>C (DDC) | ENSP00000484104.1:p.Val214Leu | |
| ENST00000617822.4:c.775G>C (DDC) | ENSP00000478385.1:p.Val259Leu | |
| ENST00000622873.4:c.805G>C (DDC) | ENSP00000479110.1:p.Val269Leu | |
| NM_000790.3:c.919G>C (DDC) | NP_000781.1:p.Val307Leu | |
| NM_001082971.1:c.919G>C (DDC) | NP_001076440.1:p.Val307Leu | |
| NM_001242886.1:c.805G>C (DDC) | NP_001229815.1:p.Val269Leu | |
| NM_001242887.1:c.775G>C (DDC) | NP_001229816.1:p.Val259Leu | |
| NM_001242888.1:c.685G>C (DDC) | NP_001229817.1:p.Val229Leu | |
| NM_001242889.1:c.640G>C (DDC) | NP_001229818.1:p.Val214Leu | |
| NM_001242890.1:c.919G>C (DDC) | NP_001229819.1:p.Val307Leu | |
| XM_005271745.3:c.805G>C (DDC) | XP_005271802.1:p.Val269Leu | |
| XM_011515161.1:c.568G>C (DDC) | XP_011513463.1:p.Val190Leu | |
| XM_005271745.4:c.805G>C (DDC) | XP_005271802.1:p.Val269Leu | |
| XM_011515161.2:c.862G>C (DDC) | XP_011513463.2:p.Val288Leu | |
| NM_001082971.2:c.919G>C (DDC) MANE Select | NP_001076440.2:p.Val307Leu | |
| NM_000790.4:c.919G>C (DDC) | NP_000781.2:p.Val307Leu | |
| NM_001242888.2:c.685G>C (DDC) | NP_001229817.2:p.Val229Leu | |
| NM_001242890.2:c.919G>C (DDC) | NP_001229819.2:p.Val307Leu | |
| NM_001242886.2:c.805G>C (DDC) | NP_001229815.2:p.Val269Leu | |
| NM_001242887.2:c.775G>C (DDC) | NP_001229816.2:p.Val259Leu | |
| NM_001242889.2:c.640G>C (DDC) | NP_001229818.2:p.Val214Leu |