Linked Data
ClinVar Variation Id:
56472
ClinVar RCV Id:
RCV000049885
dbSNP Id:
rs114203578
PubMed:
PMID:9915943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35842480C>G , CM000681.2:g.35842480C>G | GRCh38 |
| NC_000019.9:g.36333382C>G , CM000681.1:g.36333382C>G | GRCh37 |
| NC_000019.8:g.41025222C>G | NCBI36 |
| NG_013356.2:g.31808G>C , LRG_693:g.31808G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.2405G>C MANE Select | ENSP00000368190.4:p.Arg802Pro | |
| ENST00000353632.6:c.2405G>C | ENSP00000343634.5:p.Arg802Pro | |
| ENST00000378910.9:c.2405G>C | ENSP00000368190.4:p.Arg802Pro | |
| NM_004646.3:c.2405G>C , LRG_693t1:c.2405G>C | NP_004637.1:p.Arg802Pro | |
| NM_004646.4:c.2405G>C MANE Select | NP_004637.1:p.Arg802Pro |