Linked Data
ClinVar Variation Id:
359840
ClinVar RCV Id:
RCV000291443
dbSNP Id:
rs886062225
gnomAD v4:
7-24702764-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24702764T>C , CM000669.2:g.24702764T>C | GRCh38 |
| NC_000007.13:g.24742383T>C , CM000669.1:g.24742383T>C | GRCh37 |
| NC_000007.12:g.24708908T>C | NCBI36 |
| NG_011593.1:g.60257A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342947.9:c.1253A>G | ENSP00000339587.3:p.His418Arg | |
| ENST00000409970.6:c.761A>G | ENSP00000387119.1:p.His254Arg | |
| ENST00000419307.6:c.761A>G | ENSP00000401332.1:p.His254Arg | |
| ENST00000645220.1:c.1253A>G MANE Select | ENSP00000494186.1:p.His418Arg | |
| ENST00000342947.7:c.1253A>G | ENSP00000339587.3:p.His418Arg | |
| ENST00000409775.7:c.1253A>G | ENSP00000386670.3:p.His418Arg | |
| ENST00000409970.5:c.761A>G | ENSP00000387119.1:p.His254Arg | |
| ENST00000419307.5:c.761A>G | ENSP00000401332.1:p.His254Arg | |
| ENST00000430096.1:c.113A>G | ENSP00000395540.1:p.His38Arg | |
| ENST00000479636.1:n.3274A>G | ||
| NM_001127453.1:c.1253A>G | NP_001120925.1:p.His418Arg | |
| NM_001127454.1:c.761A>G | NP_001120926.1:p.His254Arg | |
| NM_004403.2:c.1253A>G | NP_004394.1:p.His418Arg | |
| XM_017011802.1:c.761A>G | XP_016867291.1:p.His254Arg | |
| XM_024446670.1:c.1253A>G | XP_024302438.1:p.His418Arg | |
| NM_004403.3:c.1253A>G | NP_004394.1:p.His418Arg | |
| NM_001127453.2:c.1253A>G MANE Select | NP_001120925.1:p.His418Arg | |
| NM_001127454.2:c.761A>G | NP_001120926.1:p.His254Arg |