Linked Data
ClinVar Variation Id:
2174
ClinVar RCV Id:
RCV000002258
dbSNP Id:
rs121918271
PubMed:
PMID:15105459
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124875145G>C , CM000673.2:g.124875145G>C | GRCh38 |
| NC_000011.9:g.124745041G>C , CM000673.1:g.124745041G>C | GRCh37 |
| NC_000011.8:g.124250251G>C | NCBI36 |
| NG_016214.1:g.14737G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000397801.6:c.2108G>C MANE Select | ENSP00000380903.1:p.Arg703Pro | |
| ENST00000397801.5:c.2108G>C | ENSP00000380903.1:p.Arg703Pro | |
| ENST00000538940.5:c.2042G>C | ENSP00000441797.1:p.Arg681Pro | |
| NM_022370.3:c.2108G>C | NP_071765.2:p.Arg703Pro | |
| XM_011542953.1:c.3080G>C | XP_011541255.1:p.Arg1027Pro | |
| XM_017018122.1:c.2042G>C | XP_016873611.1:p.Arg681Pro | |
| NM_022370.4:c.2108G>C MANE Select | NP_071765.2:p.Arg703Pro |