Linked Data
ClinVar Variation Id:
849054
ClinVar RCV Id:
RCV001052938
dbSNP Id:
rs1768804529
gnomAD v4:
6-35500130-C-T
COSMIC:
COSM5157176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35500130C>T , CM000668.2:g.35500130C>T | GRCh38 |
| NC_000006.11:g.35467907C>T , CM000668.1:g.35467907C>T | GRCh37 |
| NC_000006.10:g.35575885C>T | NCBI36 |
| NG_009077.1:g.17741G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229771.11:c.1346G>A MANE Select | ENSP00000229771.6:p.Arg449His | |
| ENST00000229771.10:c.1346G>A | ENSP00000229771.6:p.Arg449His | |
| ENST00000322263.8:c.1187G>A | ENSP00000319414.4:p.Arg396His | |
| ENST00000495781.1:n.522G>A | ||
| ENST00000614066.4:c.1340G>A | ENSP00000477534.1:p.Arg447His | |
| NM_001289395.1:c.1187G>A | NP_001276324.1:p.Arg396His | |
| NM_003322.4:c.1346G>A | NP_003313.3:p.Arg449His | |
| NM_003322.5:c.1346G>A | NP_003313.3:p.Arg449His | |
| NM_003322.6:c.1346G>A MANE Select | NP_003313.3:p.Arg449His | |
| NM_001289395.2:c.1187G>A | NP_001276324.1:p.Arg396His |