Linked Data
ClinVar Variation Id:
5320
ClinVar RCV Id:
RCV000005645
dbSNP Id:
rs137853156
PubMed:
PMID:12837689
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10412542T>G , CM000682.2:g.10412542T>G | GRCh38 |
| NC_000020.10:g.10393190T>G , CM000682.1:g.10393190T>G | GRCh37 |
| NC_000020.9:g.10341190T>G | NCBI36 |
| NG_009109.1:g.26677A>C | |
| NG_009109.2:g.26677A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651692.1:c.973A>C | ENSP00000498849.1:p.Thr325Pro | |
| ENST00000652676.1:n.617A>C | ||
| ENST00000347364.7:c.973A>C MANE Select | ENSP00000246062.4:p.Thr325Pro | |
| ENST00000399054.6:c.973A>C | ENSP00000382008.2:p.Thr325Pro | |
| NM_018848.3:c.973A>C | NP_061336.1:p.Thr325Pro | |
| NM_170784.2:c.973A>C | NP_740754.1:p.Thr325Pro | |
| NR_072977.1:n.364-3739A>C | ||
| NR_072977.2:n.347-3739A>C | ||
| NM_170784.3:c.973A>C MANE Select | NP_740754.1:p.Thr325Pro |