Linked Data
ClinVar Variation Id:
100771
ClinVar RCV Id:
RCV000087135
dbSNP Id:
rs587777154
gnomAD v4:
2-135052463-A-C
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135052463A>C , CM000664.2:g.135052463A>C | GRCh38 |
| NC_000002.11:g.135810033A>C , CM000664.1:g.135810033A>C | GRCh37 |
| NC_000002.10:g.135526503A>C | NCBI36 |
| NG_016972.1:g.5199A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539493.3:c.52A>C | ENSP00000444306.2:p.Thr18Pro | |
| ENST00000685967.1:c.52A>C | ENSP00000508423.1:p.Thr18Pro | |
| ENST00000686114.1:n.65A>C | ||
| ENST00000686403.1:n.67A>C | ||
| ENST00000687199.1:c.52A>C | ENSP00000510319.1:p.Thr18Pro | |
| ENST00000688088.1:n.71A>C | ||
| ENST00000688182.1:c.52A>C | ENSP00000509324.1:p.Thr18Pro | |
| ENST00000689880.1:n.71A>C | ||
| ENST00000690208.1:c.52A>C | ENSP00000510746.1:p.Thr18Pro | |
| ENST00000690785.1:n.71A>C | ||
| ENST00000691339.1:c.52A>C | ENSP00000509953.1:p.Thr18Pro | |
| ENST00000691478.1:c.52A>C | ENSP00000509081.1:p.Thr18Pro | |
| ENST00000693554.1:c.52A>C | ENSP00000509030.1:p.Thr18Pro | |
| ENST00000264158.13:c.52A>C MANE Select | ENSP00000264158.8:p.Thr18Pro | |
| ENST00000264158.12:c.52A>C | ENSP00000264158.7:p.Thr18Pro | |
| ENST00000425393.1:c.52A>C | ENSP00000400761.1:p.Thr18Pro | |
| ENST00000442034.5:c.52A>C | ENSP00000411418.1:p.Thr18Pro | |
| NM_001172435.1:c.52A>C | NP_001165906.1:p.Thr18Pro | |
| NM_012233.2:c.52A>C | NP_036365.1:p.Thr18Pro | |
| XM_011510822.1:c.52A>C | XP_011509124.1:p.Thr18Pro | |
| XM_011510823.1:c.52A>C | XP_011509125.1:p.Thr18Pro | |
| XM_011510824.1:c.52A>C | XP_011509126.1:p.Thr18Pro | |
| XM_011510825.1:c.52A>C | XP_011509127.1:p.Thr18Pro | |
| XM_011510823.3:c.52A>C | XP_011509125.1:p.Thr18Pro | |
| XM_011510825.3:c.52A>C | XP_011509127.1:p.Thr18Pro | |
| XR_001738674.2:n.79A>C | ||
| NM_001172435.2:c.52A>C | NP_001165906.1:p.Thr18Pro | |
| NM_012233.3:c.52A>C MANE Select | NP_036365.1:p.Thr18Pro |