Linked Data
ClinVar Variation Id:
9122
dbSNP Id:
rs137852660
ExAC:
10:103534966 G / A
gnomAD v2:
10-103534966-G-A
gnomAD v3:
10-101775209-G-A
gnomAD v4:
10-101775209-G-A
PubMed:
PMID:18596921
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101775209G>A , CM000672.2:g.101775209G>A | GRCh38 |
| NC_000010.10:g.103534966G>A , CM000672.1:g.103534966G>A | GRCh37 |
| NC_000010.9:g.103524956G>A | NCBI36 |
| NG_007151.1:g.5862C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320185.7:c.77C>T MANE Select | ENSP00000321797.2:p.Pro26Leu | |
| ENST00000618991.5:c.-123-330C>T | ENSP00000484420.1:n.-123-330C>T | |
| ENST00000344255.8:c.77C>T | ENSP00000340039.3:p.Pro26Leu | |
| ENST00000320185.6:c.77C>T | ENSP00000321797.2:p.Pro26Leu | |
| ENST00000344255.7:c.77C>T | ENSP00000340039.3:p.Pro26Leu | |
| ENST00000346714.7:c.70-330C>T | ENSP00000344306.3:n.70-330C>T | |
| ENST00000347978.2:c.70-297C>T | ENSP00000321945.2:n.70-297C>T | |
| ENST00000469792.6:c.*154-330C>T | ENSP00000473299.1:n.*154-330C>T | |
| ENST00000485728.1:n.33-297C>T | ||
| ENST00000618991.4:c.-123-330C>T | ENSP00000484420.1:n.-123-330C>T | |
| NM_001206389.1:c.-123-330C>T | NP_001193318.1:n.-123-330C>T | |
| NM_006119.4:c.70-297C>T | NP_006110.1:n.70-297C>T | |
| NM_033163.3:c.77C>T | NP_149353.1:p.Pro26Leu | |
| NM_033164.3:c.77C>T | NP_149354.1:p.Pro26Leu | |
| NM_033165.3:c.70-330C>T | NP_149355.1:n.70-330C>T | |
| XM_011539509.1:c.79-297C>T | XP_011537811.1:n.79-297C>T | |
| NM_006119.5:c.70-297C>T | NP_006110.1:n.70-297C>T | |
| NM_033163.4:c.77C>T | NP_149353.1:p.Pro26Leu | |
| NM_033164.4:c.77C>T | NP_149354.1:p.Pro26Leu | |
| NM_033165.4:c.70-330C>T | NP_149355.1:n.70-330C>T | |
| NM_001206389.2:c.-123-330C>T | NP_001193318.1:n.-123-330C>T | |
| NM_006119.6:c.70-297C>T | NP_006110.1:n.70-297C>T | |
| NM_033163.5:c.77C>T MANE Select | NP_149353.1:p.Pro26Leu | |
| NM_033165.5:c.70-330C>T | NP_149355.1:n.70-330C>T |