Linked Data
ClinVar Variation Id:
6827
ClinVar RCV Id:
RCV000007229
dbSNP Id:
rs121908256
PubMed:
PMID:19361780
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.79784771G>C , CM000679.2:g.79784771G>C | GRCh38 |
| NC_000017.10:g.77758570G>C , CM000679.1:g.77758570G>C | GRCh37 |
| NC_000017.9:g.75373165G>C | NCBI36 |
| NG_016986.1:g.11594G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310942.9:c.1328G>C MANE Select | ENSP00000308750.4:p.Arg443Pro | |
| ENST00000310942.8:c.1328G>C | ENSP00000308750.4:p.Arg443Pro | |
| NM_005189.2:c.1328G>C | NP_005180.1:p.Arg443Pro | |
| XM_011525382.1:c.1328G>C | XP_011523684.1:p.Arg443Pro | |
| XM_011525383.1:c.1073G>C | XP_011523685.1:p.Arg358Pro | |
| XM_011525383.2:c.1073G>C | XP_011523685.1:p.Arg358Pro | |
| NM_005189.3:c.1328G>C MANE Select | NP_005180.1:p.Arg443Pro |