Linked Data
ClinVar Variation Id:
383539
dbSNP Id:
rs61764068
ExAC:
7:33545217 A / T
gnomAD v2:
7-33545217-A-T
gnomAD v3:
7-33505605-A-T
gnomAD v4:
7-33505605-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33505605A>T , CM000669.2:g.33505605A>T | GRCh38 |
| NC_000007.13:g.33545217A>T , CM000669.1:g.33545217A>T | GRCh37 |
| NC_000007.12:g.33511742A>T | NCBI36 |
| NG_009306.1:g.381066A>T | |
| NG_009306.2:g.381362A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.2258A>T MANE Select | ENSP00000242067.6:p.Glu753Val | |
| ENST00000671871.1:c.2381A>T | ENSP00000499908.1:p.Glu794Val | |
| ENST00000671890.1:c.2123A>T | ENSP00000500146.1:p.Glu708Val | |
| ENST00000671952.1:c.2258A>T | ENSP00000500239.1:p.Glu753Val | |
| ENST00000671963.1:c.1892A>T | ENSP00000499904.1:p.Glu631Val | |
| ENST00000672453.1:n.2027A>T | ||
| ENST00000672717.1:c.2153A>T | ENSP00000499835.1:p.Glu718Val | |
| ENST00000672973.1:c.2258A>T | ENSP00000500017.1:p.Glu753Val | |
| ENST00000673056.1:c.2258A>T | ENSP00000499989.1:p.Glu753Val | |
| ENST00000673219.1:c.*1995A>T | ENSP00000499968.1:n.*1995A>T | |
| ENST00000673230.1:n.2289A>T | ||
| ENST00000673431.1:c.2123A>T | ENSP00000500552.1:p.Glu708Val | |
| ENST00000673462.1:c.*1004A>T | ENSP00000499848.1:n.*1004A>T | |
| ENST00000242067.10:c.2258A>T | ENSP00000242067.6:p.Glu753Val | |
| ENST00000350941.7:c.2138A>T | ENSP00000313122.6:p.Glu713Val | |
| ENST00000355070.6:c.2243A>T | ENSP00000347182.2:p.Glu748Val | |
| ENST00000396127.6:c.2153A>T | ENSP00000379433.2:p.Glu718Val | |
| ENST00000433714.5:c.*1019A>T | ENSP00000412159.1:n.*1019A>T | |
| ENST00000434373.3:c.957A>T | ||
| ENST00000489708.1:n.18A>T | ||
| ENST00000495426.1:n.24A>T | ||
| NM_001033604.1:c.2153A>T | NP_001028776.1:p.Glu718Val | |
| NM_001033605.1:c.2243A>T | NP_001028777.1:p.Glu748Val | |
| NM_014451.3:c.2138A>T | NP_055266.2:p.Glu713Val | |
| NM_198428.2:c.2258A>T | NP_940820.1:p.Glu753Val | |
| XM_005249700.3:c.2258A>T | XP_005249757.1:p.Glu753Val | |
| XM_011515264.1:c.2258A>T | XP_011513566.1:p.Glu753Val | |
| XM_011515265.1:c.2258A>T | XP_011513567.1:p.Glu753Val | |
| XM_011515266.1:c.2243A>T | XP_011513568.1:p.Glu748Val | |
| XM_011515267.1:c.2153A>T | XP_011513569.1:p.Glu718Val | |
| XM_011515268.1:c.2258A>T | XP_011513570.1:p.Glu753Val | |
| XM_011515269.1:c.1985A>T | XP_011513571.1:p.Glu662Val | |
| NM_001348036.1:c.2258A>T | NP_001334965.1:p.Glu753Val | |
| NM_001348037.2:c.1750-28349A>T | NP_001334966.1:n.1750-28349A>T | |
| NM_001348038.2:c.1985A>T | NP_001334967.1:p.Glu662Val | |
| NM_001348039.2:c.1880A>T | NP_001334968.1:p.Glu627Val | |
| NM_001348040.2:c.2138A>T | NP_001334969.1:p.Glu713Val | |
| NM_001348041.3:c.2258A>T | NP_001334970.1:p.Glu753Val | |
| NM_001348042.2:c.2123A>T | NP_001334971.1:p.Glu708Val | |
| NM_001348043.2:c.2258A>T | NP_001334972.1:p.Glu753Val | |
| NM_001348044.2:c.1787A>T | NP_001334973.1:p.Glu596Val | |
| NM_001348045.2:c.1892A>T | NP_001334974.1:p.Glu631Val | |
| NM_001348046.2:c.1892A>T | NP_001334975.1:p.Glu631Val | |
| NM_001362679.1:c.2258A>T | NP_001349608.1:p.Glu753Val | |
| NR_145411.1:n.2537A>T | ||
| NR_145412.1:n.2729A>T | ||
| NR_145413.2:n.2915A>T | ||
| XM_011515265.2:c.2258A>T | XP_011513567.1:p.Glu753Val | |
| XM_011515266.3:c.2243A>T | XP_011513568.1:p.Glu748Val | |
| XM_011515267.3:c.2153A>T | XP_011513569.1:p.Glu718Val | |
| XM_011515269.2:c.1985A>T | XP_011513571.1:p.Glu662Val | |
| XM_017011990.1:c.2243A>T | XP_016867479.1:p.Glu748Val | |
| NM_001348040.3:c.2138A>T | NP_001334969.1:p.Glu713Val | |
| NM_001348041.4:c.2258A>T | NP_001334970.1:p.Glu753Val | |
| NM_001348043.3:c.2258A>T | NP_001334972.1:p.Glu753Val | |
| NM_198428.3:c.2258A>T MANE Select | NP_940820.1:p.Glu753Val | |
| NM_001033604.2:c.2153A>T | NP_001028776.1:p.Glu718Val | |
| NM_001033605.2:c.2243A>T | NP_001028777.1:p.Glu748Val | |
| NM_001348037.3:c.1750-28349A>T | NP_001334966.1:n.1750-28349A>T | |
| NM_001348038.3:c.1985A>T | NP_001334967.1:p.Glu662Val | |
| NM_001348039.3:c.1880A>T | NP_001334968.1:p.Glu627Val | |
| NM_001348042.3:c.2123A>T | NP_001334971.1:p.Glu708Val | |
| NM_001348044.3:c.1787A>T | NP_001334973.1:p.Glu596Val | |
| NM_001348045.3:c.1892A>T | NP_001334974.1:p.Glu631Val | |
| NM_001348046.3:c.1892A>T | NP_001334975.1:p.Glu631Val | |
| NM_014451.4:c.2138A>T | NP_055266.2:p.Glu713Val | |
| NR_145413.3:n.2891A>T |