Linked Data
ClinVar Variation Id:
872
ClinVar RCV Id:
RCV000000920
dbSNP Id:
rs121918192
PubMed:
PMID:12126934
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94603547G>C , CM000671.2:g.94603547G>C | GRCh38 |
| NC_000009.11:g.97365829G>C , CM000671.1:g.97365829G>C | GRCh37 |
| NC_000009.10:g.96405650G>C | NCBI36 |
| NG_008174.1:g.41703C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682520.1:c.1011C>G | ENSP00000507547.1:n.1011C>G | |
| ENST00000375326.9:c.851C>G MANE Select | ENSP00000364475.5:p.Pro284Arg | |
| ENST00000648117.1:c.656C>G | ENSP00000498145.1:p.Pro219Arg | |
| ENST00000375326.8:c.851C>G | ENSP00000364475.4:p.Pro284Arg | |
| ENST00000415431.5:c.851C>G | ENSP00000408025.1:p.Pro284Arg | |
| NM_000507.3:c.851C>G | NP_000498.2:p.Pro284Arg | |
| NM_001127628.1:c.851C>G | NP_001121100.1:p.Pro284Arg | |
| XM_006717005.2:c.605C>G | XP_006717068.1:p.Pro202Arg | |
| XM_006717005.4:c.605C>G | XP_006717068.1:p.Pro202Arg | |
| NM_000507.4:c.851C>G MANE Select | NP_000498.2:p.Pro284Arg | |
| NM_001127628.2:c.851C>G | NP_001121100.1:p.Pro284Arg |