Linked Data
ClinVar Variation Id:
319
ClinVar RCV Id:
RCV000000347
dbSNP Id:
rs267607154
PubMed:
PMID:20159111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120788801C>G , CM000669.2:g.120788801C>G | GRCh38 |
| NC_000007.13:g.120428855C>G , CM000669.1:g.120428855C>G | GRCh37 |
| NC_000007.12:g.120216091C>G | NCBI36 |
| NG_023203.1:g.74323G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222747.8:c.709G>C MANE Select | ENSP00000222747.3:p.Ala237Pro | |
| ENST00000222747.7:c.709G>C | ENSP00000222747.3:p.Ala237Pro | |
| ENST00000415871.5:c.709G>C | ENSP00000397699.1:p.Ala237Pro | |
| ENST00000450414.5:c.688G>C | ENSP00000397411.1:n.688G>C | |
| NM_012338.3:c.709G>C | NP_036470.1:p.Ala237Pro | |
| XM_005250239.1:c.709G>C | XP_005250296.1:p.Ala237Pro | |
| XM_011515993.1:c.709G>C | XP_011514295.1:p.Ala237Pro | |
| XM_011515994.1:c.709G>C | XP_011514296.1:p.Ala237Pro | |
| XM_005250239.3:c.709G>C | XP_005250296.1:p.Ala237Pro | |
| XM_017011913.1:c.634G>C | XP_016867402.1:p.Ala212Pro | |
| NM_012338.4:c.709G>C MANE Select | NP_036470.1:p.Ala237Pro |