Linked Data
ClinVar Variation Id:
598119
ClinVar RCV Id:
RCV000734438
dbSNP Id:
rs121909073
gnomAD v4:
6-35503623-C-T
COSMIC:
COSM4524198
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35503623C>T , CM000668.2:g.35503623C>T | GRCh38 |
| NC_000006.11:g.35471400C>T , CM000668.1:g.35471400C>T | GRCh37 |
| NC_000006.10:g.35579378C>T | NCBI36 |
| NG_009077.1:g.14248G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229771.11:c.1259G>A MANE Select | ENSP00000229771.6:p.Arg420His | |
| ENST00000229771.10:c.1259G>A | ENSP00000229771.6:p.Arg420His | |
| ENST00000322263.8:c.1100G>A | ENSP00000319414.4:p.Arg367His | |
| ENST00000495781.1:n.435G>A | ||
| ENST00000496434.5:n.276G>A | ||
| ENST00000614066.4:c.1253G>A | ENSP00000477534.1:p.Arg418His | |
| NM_001289395.1:c.1100G>A | NP_001276324.1:p.Arg367His | |
| NM_003322.4:c.1259G>A | NP_003313.3:p.Arg420His | |
| NM_003322.5:c.1259G>A | NP_003313.3:p.Arg420His | |
| NM_003322.6:c.1259G>A MANE Select | NP_003313.3:p.Arg420His | |
| NM_001289395.2:c.1100G>A | NP_001276324.1:p.Arg367His |