Linked Data
ClinVar Variation Id:
7357
dbSNP Id:
rs121909073
gnomAD v4:
6-35503623-C-G
PubMed:
PMID:9462750
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35503623C>G , CM000668.2:g.35503623C>G | GRCh38 |
| NC_000006.11:g.35471400C>G , CM000668.1:g.35471400C>G | GRCh37 |
| NC_000006.10:g.35579378C>G | NCBI36 |
| NG_009077.1:g.14248G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229771.11:c.1259G>C MANE Select | ENSP00000229771.6:p.Arg420Pro | |
| ENST00000229771.10:c.1259G>C | ENSP00000229771.6:p.Arg420Pro | |
| ENST00000322263.8:c.1100G>C | ENSP00000319414.4:p.Arg367Pro | |
| ENST00000495781.1:n.435G>C | ||
| ENST00000496434.5:n.276G>C | ||
| ENST00000614066.4:c.1253G>C | ENSP00000477534.1:p.Arg418Pro | |
| NM_001289395.1:c.1100G>C | NP_001276324.1:p.Arg367Pro | |
| NM_003322.4:c.1259G>C | NP_003313.3:p.Arg420Pro | |
| NM_003322.5:c.1259G>C | NP_003313.3:p.Arg420Pro | |
| NM_003322.6:c.1259G>C MANE Select | NP_003313.3:p.Arg420Pro | |
| NM_001289395.2:c.1100G>C | NP_001276324.1:p.Arg367Pro |