Linked Data
ClinVar Variation Id:
424853
ClinVar RCV Id:
RCV000487476
dbSNP Id:
rs1064797090
PubMed:
PMID:20301708
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189410G>C , CM000675.2:g.20189410G>C | GRCh38 |
| NC_000013.10:g.20763549G>C , CM000675.1:g.20763549G>C | GRCh37 |
| NC_000013.9:g.19661549G>C | NCBI36 |
| NG_008358.1:g.8566C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.172C>G | ENSP00000372295.1:p.Pro58Ala | |
| ENST00000382848.5:c.172C>G MANE Select | ENSP00000372299.4:p.Pro58Ala | |
| ENST00000382844.1:c.172C>G | ENSP00000372295.1:p.Pro58Ala | |
| ENST00000382848.4:c.172C>G | ENSP00000372299.4:p.Pro58Ala | |
| NM_004004.5:c.172C>G | NP_003995.2:p.Pro58Ala | |
| XM_011535049.1:c.172C>G | XP_011533351.1:p.Pro58Ala | |
| XM_011535049.2:c.172C>G | XP_011533351.1:p.Pro58Ala | |
| NM_004004.6:c.172C>G MANE Select | NP_003995.2:p.Pro58Ala |