Linked Data
ClinVar Variation Id:
17778
ClinVar RCV Id:
RCV000019356
dbSNP Id:
rs121912753
gnomAD v4:
17-44251583-A-G
PubMed:
PMID:15211439
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251583A>G , CM000679.2:g.44251583A>G | GRCh38 |
| NC_000017.10:g.42328951A>G , CM000679.1:g.42328951A>G | GRCh37 |
| NC_000017.9:g.39684477A>G | NCBI36 |
| NG_007498.1:g.21552T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262418.12:c.2317T>C MANE Select | ENSP00000262418.6:p.Ser773Pro | |
| ENST00000262418.10:c.2317T>C | ENSP00000262418.6:p.Ser773Pro | |
| ENST00000399246.3:c.1219T>C | ENSP00000382190.3:p.Ser407Pro | |
| NM_000342.3:c.2317T>C | NP_000333.1:p.Ser773Pro | |
| XM_005257593.3:c.2122T>C | XP_005257650.1:p.Ser708Pro | |
| XM_011525129.1:c.2227T>C | XP_011523431.1:p.Ser743Pro | |
| XM_011525130.1:c.*27T>C | XP_011523432.1:n.*27T>C | |
| XM_005257593.5:c.2122T>C | XP_005257650.1:p.Ser708Pro | |
| XM_011525129.2:c.2227T>C | XP_011523431.1:p.Ser743Pro | |
| NM_000342.4:c.2317T>C MANE Select | NP_000333.1:p.Ser773Pro |