Linked Data
ClinVar Variation Id:
288529
dbSNP Id:
rs201460699
ExAC:
2:110881615 G / A
gnomAD v2:
2-110881615-G-A
gnomAD v3:
2-110124038-G-A
gnomAD v4:
2-110124038-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110124038G>A , CM000664.2:g.110124038G>A | GRCh38 |
| NC_000002.11:g.110881615G>A , CM000664.1:g.110881615G>A | GRCh37 |
| NC_000002.10:g.110238904G>A | NCBI36 |
| NG_008287.1:g.86025C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.1787C>T MANE Select | ENSP00000389879.3:p.Thr596Met | |
| ENST00000674677.1:c.3405C>T | ENSP00000502265.1:n.3405C>T | |
| ENST00000675067.1:c.986C>T | ENSP00000502817.1:p.Thr329Met | |
| ENST00000675294.1:n.6036C>T | ||
| ENST00000675356.1:n.2465C>T | ||
| ENST00000675632.1:n.3191C>T | ||
| ENST00000675752.1:n.3625C>T | ||
| ENST00000676028.1:c.1604C>T | ENSP00000502639.1:p.Thr535Met | |
| ENST00000676053.1:c.1598C>T | ENSP00000502475.1:p.Thr533Met | |
| ENST00000676091.1:c.983C>T | ENSP00000502528.1:p.Thr328Met | |
| ENST00000676165.1:n.3450C>T | ||
| ENST00000676258.1:n.3013C>T | ||
| ENST00000316534.8:c.1955C>T | ENSP00000313169.4:p.Thr652Met | |
| ENST00000355301.8:c.1598C>T | ENSP00000347452.4:p.Thr533Met | |
| ENST00000393272.7:c.1952C>T | ENSP00000376953.3:p.Thr651Met | |
| ENST00000417665.5:c.1889C>T | ENSP00000402176.1:p.Thr630Met | |
| ENST00000445609.6:c.1787C>T | ENSP00000389879.2:p.Thr596Met | |
| ENST00000461707.5:n.3372C>T | ||
| ENST00000496524.5:n.9316C>T | ||
| NM_000272.3:c.1955C>T | NP_000263.2:p.Thr652Met | |
| NM_001128178.1:c.1787C>T | NP_001121650.1:p.Thr596Met | |
| NM_001128179.1:c.1598C>T | NP_001121651.1:p.Thr533Met | |
| NM_207181.2:c.1952C>T | NP_997064.2:p.Thr651Met | |
| XM_005263675.1:c.2057C>T | XP_005263732.1:p.Thr686Met | |
| XM_005263676.1:c.1892C>T | XP_005263733.1:p.Thr631Met | |
| XM_005263677.1:c.1889C>T | XP_005263734.1:p.Thr630Met | |
| XM_005263678.2:c.*29C>T | XP_005263735.1:n.*29C>T | |
| XM_005263679.1:c.1784C>T | XP_005263736.1:p.Thr595Met | |
| XM_006712551.1:c.2060C>T | XP_006712614.1:p.Thr687Met | |
| XM_011511244.1:c.*54C>T | XP_011509546.1:n.*54C>T | |
| XM_017004218.1:c.*29C>T | XP_016859707.1:n.*29C>T | |
| NM_000272.4:c.1955C>T | NP_000263.2:p.Thr652Met | |
| NM_001128178.3:c.1787C>T MANE Select | NP_001121650.1:p.Thr596Met | |
| NM_001128179.2:c.1598C>T | NP_001121651.1:p.Thr533Met | |
| NM_001374256.1:c.1784C>T | NP_001361185.1:p.Thr595Met | |
| NM_001374257.1:c.*29C>T | NP_001361186.1:n.*29C>T | |
| NM_207181.3:c.1952C>T | NP_997064.2:p.Thr651Met | |
| NM_000272.5:c.1955C>T | NP_000263.2:p.Thr652Met | |
| NM_001128179.3:c.1598C>T | NP_001121651.1:p.Thr533Met | |
| NM_207181.4:c.1952C>T | NP_997064.2:p.Thr651Met |