Linked Data
ClinVar Variation Id:
466604
ClinVar RCV Id:
RCV000544134
dbSNP Id:
rs751427686
ExAC:
4:52894973 T / G
gnomAD v2:
4-52894973-T-G
gnomAD v4:
4-52028807-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028807T>G , CM000666.2:g.52028807T>G | GRCh38 |
| NC_000004.11:g.52894973T>G , CM000666.1:g.52894973T>G | GRCh37 |
| NC_000004.10:g.52589730T>G | NCBI36 |
| NG_008891.1:g.14513A>C , LRG_204:g.14513A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.544A>C MANE Select | ENSP00000370839.6:p.Thr182Pro | |
| ENST00000381431.9:c.544A>C | ENSP00000370839.5:p.Thr182Pro | |
| ENST00000506357.5:c.627A>C | ||
| NM_000232.4:c.544A>C , LRG_204t1:c.544A>C | NP_000223.1:p.Thr182Pro | |
| XM_006714049.2:c.247A>C | XP_006714112.1:p.Thr83Pro | |
| XM_011534403.1:c.334A>C | XP_011532705.1:p.Thr112Pro | |
| XM_011534404.1:c.247A>C | XP_011532706.1:p.Thr83Pro | |
| NM_000232.5:c.544A>C MANE Select | NP_000223.1:p.Thr182Pro |