Linked Data
ClinVar Variation Id:
18043
ClinVar RCV Id:
RCV000019659
dbSNP Id:
rs121909572
PubMed:
PMID:11713457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173910849A>G , CM000663.2:g.173910849A>G | GRCh38 |
| NC_000001.10:g.173879987A>G , CM000663.1:g.173879987A>G | GRCh37 |
| NC_000001.9:g.172146610A>G | NCBI36 |
| NG_012462.1:g.11530T>C , LRG_577:g.11530T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.667T>C MANE Select | ENSP00000356671.3:p.Ser223Pro | |
| ENST00000367698.3:c.667T>C | ENSP00000356671.3:p.Ser223Pro | |
| ENST00000487183.1:n.330-12T>C | ||
| ENST00000617423.4:c.559+1015T>C | ENSP00000478688.1:n.559+1015T>C | |
| NM_000488.3:c.667T>C , LRG_577t1:c.667T>C | NP_000479.1:p.Ser223Pro | |
| XM_005245198.2:c.523T>C | XP_005245255.1:p.Ser175Pro | |
| NM_001365052.1:c.523T>C | NP_001351981.1:p.Ser175Pro | |
| NM_000488.4:c.667T>C MANE Select | NP_000479.1:p.Ser223Pro | |
| NM_001365052.2:c.523T>C | NP_001351981.1:p.Ser175Pro | |
| NM_001386302.1:c.667T>C | NP_001373231.1:p.Ser223Pro | |
| NM_001386303.1:c.748T>C | NP_001373232.1:p.Ser250Pro | |
| NM_001386304.1:c.667T>C | NP_001373233.1:p.Ser223Pro | |
| NM_001386305.1:c.667T>C | NP_001373234.1:p.Ser223Pro | |
| NM_001386306.1:c.451T>C | NP_001373235.1:p.Ser151Pro |