Linked Data
ClinVar Variation Id:
89071
ClinVar RCV Id:
RCV000074606
dbSNP Id:
rs398122420
gnomAD v2:
19-7747687-G-C
gnomAD v3:
19-7682801-G-C
gnomAD v4:
19-7682801-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7682801G>C , CM000681.2:g.7682801G>C | GRCh38 |
| NC_000019.9:g.7747687G>C , CM000681.1:g.7747687G>C | GRCh37 |
| NC_000019.8:g.7653687G>C | NCBI36 |
| NG_055288.1:g.6981G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000596148.3:c.548G>C MANE Select | ENSP00000470262.1:p.Arg183Pro | |
| ENST00000317378.5:c.548G>C | ENSP00000316990.4:p.Arg183Pro | |
| ENST00000426877.2:c.548G>C | ENSP00000399025.1:p.Arg183Pro | |
| ENST00000595985.1:c.347G>C | ENSP00000470703.1:p.Arg116Pro | |
| ENST00000596148.2:c.548G>C | ENSP00000470262.1:p.Arg183Pro | |
| ENST00000597959.1:c.724G>C | ||
| NM_001042461.2:c.548G>C | NP_001035926.1:p.Arg183Pro | |
| NM_001042462.1:c.548G>C | NP_001035927.1:p.Arg183Pro | |
| NM_174894.2:c.548G>C | NP_777554.1:p.Arg183Pro | |
| NM_001042462.2:c.548G>C MANE Select | NP_001035927.1:p.Arg183Pro | |
| NM_001042461.3:c.548G>C | NP_001035926.1:p.Arg183Pro | |
| NM_174894.3:c.548G>C | NP_777554.1:p.Arg183Pro |