Linked Data
ClinVar Variation Id:
360071
dbSNP Id:
rs376692708
ExAC:
7:33644493 C / T
gnomAD v2:
7-33644493-C-T
gnomAD v3:
7-33604881-C-T
gnomAD v4:
7-33604881-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.33604881C>T , CM000669.2:g.33604881C>T | GRCh38 |
| NC_000007.13:g.33644493C>T , CM000669.1:g.33644493C>T | GRCh37 |
| NC_000007.12:g.33611018C>T | NCBI36 |
| NG_009306.1:g.480342C>T | |
| NG_009306.2:g.480638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242067.11:c.2538C>T MANE Select | ENSP00000242067.6:p.Ile846= | |
| ENST00000671871.1:c.2661C>T | ENSP00000499908.1:p.Ile887= | |
| ENST00000671890.1:c.2403C>T | ENSP00000500146.1:p.Ile801= | |
| ENST00000671952.1:c.2522-30296C>T | ENSP00000500239.1:n.2522-30296C>T | |
| ENST00000671963.1:c.2172C>T | ENSP00000499904.1:p.Ile724= | |
| ENST00000672453.1:n.2307C>T | ||
| ENST00000672717.1:c.2433C>T | ENSP00000499835.1:p.Ile811= | |
| ENST00000672758.1:n.96C>T | ||
| ENST00000672973.1:c.*98C>T | ENSP00000500017.1:n.*98C>T | |
| ENST00000673056.1:c.2538C>T | ENSP00000499989.1:p.Ile846= | |
| ENST00000673219.1:c.*2275C>T | ENSP00000499968.1:n.*2275C>T | |
| ENST00000673230.1:n.2569C>T | ||
| ENST00000673462.1:c.*1284C>T | ENSP00000499848.1:n.*1284C>T | |
| ENST00000242067.10:c.2538C>T | ENSP00000242067.6:p.Ile846= | |
| ENST00000350941.7:c.2418C>T | ENSP00000313122.6:p.Ile806= | |
| ENST00000355070.6:c.2523C>T | ENSP00000347182.2:p.Ile841= | |
| ENST00000396127.6:c.2433C>T | ENSP00000379433.2:p.Ile811= | |
| ENST00000433714.5:c.*1299C>T | ENSP00000412159.1:n.*1299C>T | |
| ENST00000434373.3:c.1237C>T | ||
| ENST00000489708.1:n.388C>T | ||
| ENST00000498189.1:n.507C>T | ||
| NM_001033604.1:c.2433C>T | NP_001028776.1:p.Ile811= | |
| NM_001033605.1:c.2523C>T | NP_001028777.1:p.Ile841= | |
| NM_014451.3:c.2418C>T | NP_055266.2:p.Ile806= | |
| NM_198428.2:c.2538C>T | NP_940820.1:p.Ile846= | |
| XM_005249700.3:c.2538C>T | XP_005249757.1:p.Ile846= | |
| XM_011515264.1:c.2538C>T | XP_011513566.1:p.Ile846= | |
| XM_011515265.1:c.2538C>T | XP_011513567.1:p.Ile846= | |
| XM_011515266.1:c.2523C>T | XP_011513568.1:p.Ile841= | |
| XM_011515267.1:c.2433C>T | XP_011513569.1:p.Ile811= | |
| XM_011515268.1:c.2522-30296C>T | XP_011513570.1:n.2522-30296C>T | |
| XM_011515269.1:c.2265C>T | XP_011513571.1:p.Ile755= | |
| NM_001348036.1:c.2538C>T | NP_001334965.1:p.Ile846= | |
| NM_001348037.2:c.1989C>T | NP_001334966.1:p.Ile663= | |
| NM_001348038.2:c.2265C>T | NP_001334967.1:p.Ile755= | |
| NM_001348039.2:c.2160C>T | NP_001334968.1:p.Ile720= | |
| NM_001348040.2:c.2418C>T | NP_001334969.1:p.Ile806= | |
| NM_001348041.3:c.2538C>T | NP_001334970.1:p.Ile846= | |
| NM_001348042.2:c.2403C>T | NP_001334971.1:p.Ile801= | |
| NM_001348043.2:c.2538C>T | NP_001334972.1:p.Ile846= | |
| NM_001348044.2:c.2067C>T | NP_001334973.1:p.Ile689= | |
| NM_001348045.2:c.2172C>T | NP_001334974.1:p.Ile724= | |
| NM_001348046.2:c.2172C>T | NP_001334975.1:p.Ile724= | |
| NM_001362679.1:c.2522-30296C>T | NP_001349608.1:n.2522-30296C>T | |
| NR_145411.1:n.2896C>T | ||
| NR_145412.1:n.3009C>T | ||
| NR_145413.2:n.3195C>T | ||
| XM_011515265.2:c.2538C>T | XP_011513567.1:p.Ile846= | |
| XM_011515266.3:c.2523C>T | XP_011513568.1:p.Ile841= | |
| XM_011515267.3:c.2433C>T | XP_011513569.1:p.Ile811= | |
| XM_011515269.2:c.2265C>T | XP_011513571.1:p.Ile755= | |
| XM_017011990.1:c.2523C>T | XP_016867479.1:p.Ile841= | |
| NM_001348040.3:c.2418C>T | NP_001334969.1:p.Ile806= | |
| NM_001348041.4:c.2538C>T | NP_001334970.1:p.Ile846= | |
| NM_001348043.3:c.2538C>T | NP_001334972.1:p.Ile846= | |
| NM_198428.3:c.2538C>T MANE Select | NP_940820.1:p.Ile846= | |
| NM_001033604.2:c.2433C>T | NP_001028776.1:p.Ile811= | |
| NM_001033605.2:c.2523C>T | NP_001028777.1:p.Ile841= | |
| NM_001348037.3:c.1989C>T | NP_001334966.1:p.Ile663= | |
| NM_001348038.3:c.2265C>T | NP_001334967.1:p.Ile755= | |
| NM_001348039.3:c.2160C>T | NP_001334968.1:p.Ile720= | |
| NM_001348042.3:c.2403C>T | NP_001334971.1:p.Ile801= | |
| NM_001348044.3:c.2067C>T | NP_001334973.1:p.Ile689= | |
| NM_001348045.3:c.2172C>T | NP_001334974.1:p.Ile724= | |
| NM_001348046.3:c.2172C>T | NP_001334975.1:p.Ile724= | |
| NM_014451.4:c.2418C>T | NP_055266.2:p.Ile806= | |
| NR_145413.3:n.3171C>T |