Linked Data
ClinVar Variation Id:
650059
ClinVar RCV Id:
RCV000805140
dbSNP Id:
rs1578125133
gnomAD v4:
4-52028023-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028023A>G , CM000666.2:g.52028023A>G | GRCh38 |
| NC_000004.11:g.52894189A>G , CM000666.1:g.52894189A>G | GRCh37 |
| NC_000004.10:g.52588946A>G | NCBI36 |
| NG_008891.1:g.15297T>C , LRG_204:g.15297T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.698T>C MANE Select | ENSP00000370839.6:p.Phe233Ser | |
| ENST00000381431.9:c.698T>C | ENSP00000370839.5:p.Phe233Ser | |
| NM_000232.4:c.698T>C , LRG_204t1:c.698T>C | NP_000223.1:p.Phe233Ser | |
| XM_006714049.2:c.401T>C | XP_006714112.1:p.Phe134Ser | |
| XM_011534403.1:c.488T>C | XP_011532705.1:p.Phe163Ser | |
| XM_011534404.1:c.401T>C | XP_011532706.1:p.Phe134Ser | |
| NM_000232.5:c.698T>C MANE Select | NP_000223.1:p.Phe233Ser |