Linked Data
ClinVar Variation Id:
95291
dbSNP Id:
rs398124209
gnomAD v2:
11-64520597-G-C
gnomAD v3:
11-64753125-G-C
gnomAD v4:
11-64753125-G-C
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64753125G>C , CM000673.2:g.64753125G>C | GRCh38 |
| NC_000011.9:g.64520597G>C , CM000673.1:g.64520597G>C | GRCh37 |
| NC_000011.8:g.64277173G>C | NCBI36 |
| NG_013018.1:g.12591C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000164139.4:c.1466C>G MANE Select | ENSP00000164139.3:p.Pro489Arg | |
| ENST00000164139.3:c.1466C>G | ENSP00000164139.3:p.Pro489Arg | |
| ENST00000377432.7:c.1202C>G | ENSP00000366650.3:p.Pro401Arg | |
| NM_001164716.1:c.1202C>G | NP_001158188.1:p.Pro401Arg | |
| NM_005609.2:c.1466C>G | NP_005600.1:p.Pro489Arg | |
| NM_005609.3:c.1466C>G | NP_005600.1:p.Pro489Arg | |
| NM_005609.4:c.1466C>G MANE Select | NP_005600.1:p.Pro489Arg |