Linked Data
ClinVar Variation Id:
191751
dbSNP Id:
rs144031245
ExAC:
10:69926308 A / G
gnomAD v2:
10-69926308-A-G
gnomAD v3:
10-68166551-A-G
gnomAD v4:
10-68166551-A-G
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68166551A>G , CM000672.2:g.68166551A>G | GRCh38 |
| NC_000010.10:g.69926308A>G , CM000672.1:g.69926308A>G | GRCh37 |
| NC_000010.9:g.69596314A>G | NCBI36 |
| NG_032118.1:g.65435A>G , LRG_410:g.65435A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354393.7:c.1033A>G | ENSP00000346369.2:p.Thr345Ala | |
| ENST00000373675.4:c.1858A>G | ENSP00000362779.4:p.Thr620Ala | |
| ENST00000540630.6:c.1912A>G | ENSP00000441668.3:p.Thr638Ala | |
| ENST00000613327.5:c.1858A>G | ENSP00000480757.2:p.Thr620Ala | |
| ENST00000687572.1:c.736A>G | ENSP00000510427.1:p.Thr246Ala | |
| ENST00000688812.1:c.1834A>G | ENSP00000510658.1:p.Thr612Ala | |
| ENST00000690544.1:c.*1129A>G | ENSP00000508989.1:n.*1129A>G | |
| ENST00000358913.10:c.1858A>G MANE Select | ENSP00000351790.5:p.Thr620Ala | |
| ENST00000354393.6:c.1033A>G | ENSP00000346369.2:p.Thr345Ala | |
| ENST00000358913.9:c.1858A>G | ENSP00000351790.5:p.Thr620Ala | |
| ENST00000540630.5:c.1858A>G | ENSP00000441668.2:p.Thr620Ala | |
| ENST00000613327.4:c.976A>G | ENSP00000480757.1:p.Thr326Ala | |
| NM_001256267.1:c.1858A>G | NP_001243196.1:p.Thr620Ala | |
| NM_001256268.1:c.976A>G | NP_001243197.1:p.Thr326Ala | |
| NM_032578.3:c.1858A>G , LRG_410t1:c.1858A>G | NP_115967.2:p.Thr620Ala | |
| NR_045662.3:n.1285A>G | ||
| NR_045663.3:n.2126A>G | ||
| XM_006718043.2:c.1912A>G | XP_006718106.1:p.Thr638Ala | |
| XM_011540292.1:c.1888A>G | XP_011538594.1:p.Thr630Ala | |
| XM_017016833.1:c.1936A>G | XP_016872322.1:p.Thr646Ala | |
| XM_017016834.2:c.1858A>G | XP_016872323.1:p.Thr620Ala | |
| XM_024448236.1:c.736A>G | XP_024304004.1:p.Thr246Ala | |
| NR_045662.4:n.1395A>G | ||
| NR_045663.4:n.2071A>G | ||
| NM_001256267.2:c.1858A>G | NP_001243196.1:p.Thr620Ala | |
| NM_001256268.2:c.976A>G | NP_001243197.1:p.Thr326Ala | |
| NM_032578.4:c.1858A>G MANE Select | NP_115967.2:p.Thr620Ala |