Linked Data
dbSNP Id:
rs775932133
ExAC:
12:56087071 G / A
gnomAD v2:
12-56087071-G-A
gnomAD v4:
12-55693287-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55693287G>A , CM000674.2:g.55693287G>A | GRCh38 |
| NC_000012.11:g.56087071G>A , CM000674.1:g.56087071G>A | GRCh37 |
| NC_000012.10:g.54373338G>A | NCBI36 |
| NG_012343.1:g.24019C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2190C>T | ENSP00000452467.1:n.*2190C>T | |
| ENST00000554327.6:c.1237C>T | ||
| ENST00000557058.2:n.1981C>T | ||
| ENST00000557257.2:c.2092C>T | ENSP00000450578.2:p.Leu698= | |
| ENST00000557555.3:c.2578C>T | ENSP00000451039.3:p.Leu860= | |
| ENST00000686981.1:c.*2277C>T | ENSP00000510795.1:n.*2277C>T | |
| ENST00000687390.1:n.672C>T | ||
| ENST00000691052.1:c.*1050C>T | ENSP00000508886.1:n.*1050C>T | |
| ENST00000691846.1:c.1379C>T | ||
| ENST00000691973.1:c.2578C>T | ENSP00000509141.1:p.Leu860= | |
| ENST00000257879.11:c.2566C>T MANE Select | ENSP00000257879.7:p.Leu856= | |
| ENST00000553804.6:c.2578C>T | ENSP00000452120.1:p.Leu860= | |
| ENST00000257879.10:c.2566C>T | ENSP00000257879.6:p.Leu856= | |
| ENST00000347027.10:c.2548C>T | ENSP00000343009.6:p.Leu850= | |
| ENST00000452168.6:c.2287C>T | ENSP00000393844.2:p.Leu763= | |
| ENST00000553804.5:c.2578C>T | ENSP00000452120.1:p.Leu860= | |
| ENST00000554327.5:c.631C>T | ||
| ENST00000555728.5:c.2698C>T | ENSP00000452387.1:p.Leu900= | |
| NM_001144996.1:c.2578C>T | NP_001138468.1:p.Leu860= | |
| NM_001144997.1:c.2287C>T | NP_001138469.1:p.Leu763= | |
| NM_002206.2:c.2566C>T | NP_002197.2:p.Leu856= | |
| XM_005268839.1:c.2698C>T | XP_005268896.1:p.Leu900= | |
| XM_005268840.1:c.2680C>T | XP_005268897.1:p.Leu894= | |
| XM_005268841.1:c.2698C>T | XP_005268898.1:p.Leu900= | |
| XM_005268842.1:c.2548C>T | XP_005268899.1:p.Leu850= | |
| XM_005268844.1:c.2359C>T | XP_005268901.1:p.Leu787= | |
| XM_005268845.1:c.2227C>T | XP_005268902.1:p.Leu743= | |
| XM_005268846.1:c.2227C>T | XP_005268903.1:p.Leu743= | |
| XM_005268847.1:c.2224C>T | XP_005268904.1:p.Leu742= | |
| XM_005268848.1:c.2224C>T | XP_005268905.1:p.Leu742= | |
| XM_005268849.1:c.2224C>T | XP_005268906.1:p.Leu742= | |
| XM_005268850.1:c.2092C>T | XP_005268907.1:p.Leu698= | |
| XM_011538286.1:c.2359C>T | XP_011536588.1:p.Leu787= | |
| XM_005268839.2:c.2698C>T | XP_005268896.1:p.Leu900= | |
| XM_005268840.2:c.2680C>T | XP_005268897.1:p.Leu894= | |
| XM_005268841.2:c.2698C>T | XP_005268898.1:p.Leu900= | |
| XM_005268842.2:c.2548C>T | XP_005268899.1:p.Leu850= | |
| XM_017019265.1:c.2308C>T | XP_016874754.1:p.Leu770= | |
| NM_001144996.2:c.2578C>T | NP_001138468.1:p.Leu860= | |
| NM_001367993.1:c.2239C>T | NP_001354922.1:p.Leu747= | |
| NM_001367994.1:c.1222C>T | NP_001354923.1:p.Leu408= | |
| NM_001374465.1:c.2548C>T | NP_001361394.1:p.Leu850= | |
| NM_002206.3:c.2566C>T MANE Select | NP_002197.2:p.Leu856= |