Linked Data
ClinVar Variation Id:
466606
ClinVar RCV Id:
RCV000537131
dbSNP Id:
rs1553940064
gnomAD v4:
4-52027996-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52027996T>G , CM000666.2:g.52027996T>G | GRCh38 |
| NC_000004.11:g.52894162T>G , CM000666.1:g.52894162T>G | GRCh37 |
| NC_000004.10:g.52588919T>G | NCBI36 |
| NG_008891.1:g.15324A>C , LRG_204:g.15324A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.725A>C MANE Select | ENSP00000370839.6:p.His242Pro | |
| ENST00000381431.9:c.725A>C | ENSP00000370839.5:p.His242Pro | |
| NM_000232.4:c.725A>C , LRG_204t1:c.725A>C | NP_000223.1:p.His242Pro | |
| XM_006714049.2:c.428A>C | XP_006714112.1:p.His143Pro | |
| XM_011534403.1:c.515A>C | XP_011532705.1:p.His172Pro | |
| XM_011534404.1:c.428A>C | XP_011532706.1:p.His143Pro | |
| NM_000232.5:c.725A>C MANE Select | NP_000223.1:p.His242Pro |