Linked Data
ClinVar Variation Id:
497541
dbSNP Id:
rs148536971
ExAC:
7:33545173 C / T
gnomAD v2:
7-33545173-C-T
gnomAD v3:
7-33505561-C-T
gnomAD v4:
7-33505561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33505561C>T , CM000669.2:g.33505561C>T | GRCh38 |
| NC_000007.13:g.33545173C>T , CM000669.1:g.33545173C>T | GRCh37 |
| NC_000007.12:g.33511698C>T | NCBI36 |
| NG_009306.1:g.381022C>T | |
| NG_009306.2:g.381318C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.2214C>T MANE Select | ENSP00000242067.6:p.Ile738= | |
| ENST00000671871.1:c.2337C>T | ENSP00000499908.1:p.Ile779= | |
| ENST00000671890.1:c.2079C>T | ENSP00000500146.1:p.Ile693= | |
| ENST00000671952.1:c.2214C>T | ENSP00000500239.1:p.Ile738= | |
| ENST00000671963.1:c.1848C>T | ENSP00000499904.1:p.Ile616= | |
| ENST00000672453.1:n.1983C>T | ||
| ENST00000672717.1:c.2109C>T | ENSP00000499835.1:p.Ile703= | |
| ENST00000672973.1:c.2214C>T | ENSP00000500017.1:p.Ile738= | |
| ENST00000673056.1:c.2214C>T | ENSP00000499989.1:p.Ile738= | |
| ENST00000673219.1:c.*1951C>T | ENSP00000499968.1:n.*1951C>T | |
| ENST00000673230.1:n.2245C>T | ||
| ENST00000673431.1:c.2079C>T | ENSP00000500552.1:p.Ile693= | |
| ENST00000673462.1:c.*960C>T | ENSP00000499848.1:n.*960C>T | |
| ENST00000242067.10:c.2214C>T | ENSP00000242067.6:p.Ile738= | |
| ENST00000350941.7:c.2094C>T | ENSP00000313122.6:p.Ile698= | |
| ENST00000355070.6:c.2199C>T | ENSP00000347182.2:p.Ile733= | |
| ENST00000396127.6:c.2109C>T | ENSP00000379433.2:p.Ile703= | |
| ENST00000433714.5:c.*975C>T | ENSP00000412159.1:n.*975C>T | |
| ENST00000434373.3:c.913C>T | ||
| NM_001033604.1:c.2109C>T | NP_001028776.1:p.Ile703= | |
| NM_001033605.1:c.2199C>T | NP_001028777.1:p.Ile733= | |
| NM_014451.3:c.2094C>T | NP_055266.2:p.Ile698= | |
| NM_198428.2:c.2214C>T | NP_940820.1:p.Ile738= | |
| XM_005249700.3:c.2214C>T | XP_005249757.1:p.Ile738= | |
| XM_011515264.1:c.2214C>T | XP_011513566.1:p.Ile738= | |
| XM_011515265.1:c.2214C>T | XP_011513567.1:p.Ile738= | |
| XM_011515266.1:c.2199C>T | XP_011513568.1:p.Ile733= | |
| XM_011515267.1:c.2109C>T | XP_011513569.1:p.Ile703= | |
| XM_011515268.1:c.2214C>T | XP_011513570.1:p.Ile738= | |
| XM_011515269.1:c.1941C>T | XP_011513571.1:p.Ile647= | |
| NM_001348036.1:c.2214C>T | NP_001334965.1:p.Ile738= | |
| NM_001348037.2:c.1750-28393C>T | NP_001334966.1:n.1750-28393C>T | |
| NM_001348038.2:c.1941C>T | NP_001334967.1:p.Ile647= | |
| NM_001348039.2:c.1836C>T | NP_001334968.1:p.Ile612= | |
| NM_001348040.2:c.2094C>T | NP_001334969.1:p.Ile698= | |
| NM_001348041.3:c.2214C>T | NP_001334970.1:p.Ile738= | |
| NM_001348042.2:c.2079C>T | NP_001334971.1:p.Ile693= | |
| NM_001348043.2:c.2214C>T | NP_001334972.1:p.Ile738= | |
| NM_001348044.2:c.1743C>T | NP_001334973.1:p.Ile581= | |
| NM_001348045.2:c.1848C>T | NP_001334974.1:p.Ile616= | |
| NM_001348046.2:c.1848C>T | NP_001334975.1:p.Ile616= | |
| NM_001362679.1:c.2214C>T | NP_001349608.1:p.Ile738= | |
| NR_145411.1:n.2493C>T | ||
| NR_145412.1:n.2685C>T | ||
| NR_145413.2:n.2871C>T | ||
| XM_011515265.2:c.2214C>T | XP_011513567.1:p.Ile738= | |
| XM_011515266.3:c.2199C>T | XP_011513568.1:p.Ile733= | |
| XM_011515267.3:c.2109C>T | XP_011513569.1:p.Ile703= | |
| XM_011515269.2:c.1941C>T | XP_011513571.1:p.Ile647= | |
| XM_017011990.1:c.2199C>T | XP_016867479.1:p.Ile733= | |
| NM_001348040.3:c.2094C>T | NP_001334969.1:p.Ile698= | |
| NM_001348041.4:c.2214C>T | NP_001334970.1:p.Ile738= | |
| NM_001348043.3:c.2214C>T | NP_001334972.1:p.Ile738= | |
| NM_198428.3:c.2214C>T MANE Select | NP_940820.1:p.Ile738= | |
| NM_001033604.2:c.2109C>T | NP_001028776.1:p.Ile703= | |
| NM_001033605.2:c.2199C>T | NP_001028777.1:p.Ile733= | |
| NM_001348037.3:c.1750-28393C>T | NP_001334966.1:n.1750-28393C>T | |
| NM_001348038.3:c.1941C>T | NP_001334967.1:p.Ile647= | |
| NM_001348039.3:c.1836C>T | NP_001334968.1:p.Ile612= | |
| NM_001348042.3:c.2079C>T | NP_001334971.1:p.Ile693= | |
| NM_001348044.3:c.1743C>T | NP_001334973.1:p.Ile581= | |
| NM_001348045.3:c.1848C>T | NP_001334974.1:p.Ile616= | |
| NM_001348046.3:c.1848C>T | NP_001334975.1:p.Ile616= | |
| NM_014451.4:c.2094C>T | NP_055266.2:p.Ile698= | |
| NR_145413.3:n.2847C>T |