Linked Data
dbSNP Id:
rs760184521
ExAC:
12:56087061 G / A
gnomAD v2:
12-56087061-G-A
gnomAD v4:
12-55693277-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55693277G>A , CM000674.2:g.55693277G>A | GRCh38 |
| NC_000012.11:g.56087061G>A , CM000674.1:g.56087061G>A | GRCh37 |
| NC_000012.10:g.54373328G>A | NCBI36 |
| NG_012343.1:g.24029C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2200C>T | ENSP00000452467.1:n.*2200C>T | |
| ENST00000554327.6:c.1247C>T | ||
| ENST00000557058.2:n.1991C>T | ||
| ENST00000557257.2:c.2102C>T | ENSP00000450578.2:p.Ala701Val | |
| ENST00000557555.3:c.2588C>T | ENSP00000451039.3:p.Ala863Val | |
| ENST00000686981.1:c.*2287C>T | ENSP00000510795.1:n.*2287C>T | |
| ENST00000687390.1:n.682C>T | ||
| ENST00000691052.1:c.*1060C>T | ENSP00000508886.1:n.*1060C>T | |
| ENST00000691846.1:c.1389C>T | ||
| ENST00000691973.1:c.2588C>T | ENSP00000509141.1:p.Ala863Val | |
| ENST00000257879.11:c.2576C>T MANE Select | ENSP00000257879.7:p.Ala859Val | |
| ENST00000553804.6:c.2588C>T | ENSP00000452120.1:p.Ala863Val | |
| ENST00000257879.10:c.2576C>T | ENSP00000257879.6:p.Ala859Val | |
| ENST00000347027.10:c.2558C>T | ENSP00000343009.6:p.Ala853Val | |
| ENST00000452168.6:c.2297C>T | ENSP00000393844.2:p.Ala766Val | |
| ENST00000553804.5:c.2588C>T | ENSP00000452120.1:p.Ala863Val | |
| ENST00000554327.5:c.641C>T | ||
| ENST00000555728.5:c.2708C>T | ENSP00000452387.1:p.Ala903Val | |
| NM_001144996.1:c.2588C>T | NP_001138468.1:p.Ala863Val | |
| NM_001144997.1:c.2297C>T | NP_001138469.1:p.Ala766Val | |
| NM_002206.2:c.2576C>T | NP_002197.2:p.Ala859Val | |
| XM_005268839.1:c.2708C>T | XP_005268896.1:p.Ala903Val | |
| XM_005268840.1:c.2690C>T | XP_005268897.1:p.Ala897Val | |
| XM_005268841.1:c.2708C>T | XP_005268898.1:p.Ala903Val | |
| XM_005268842.1:c.2558C>T | XP_005268899.1:p.Ala853Val | |
| XM_005268844.1:c.2369C>T | XP_005268901.1:p.Ala790Val | |
| XM_005268845.1:c.2237C>T | XP_005268902.1:p.Ala746Val | |
| XM_005268846.1:c.2237C>T | XP_005268903.1:p.Ala746Val | |
| XM_005268847.1:c.2234C>T | XP_005268904.1:p.Ala745Val | |
| XM_005268848.1:c.2234C>T | XP_005268905.1:p.Ala745Val | |
| XM_005268849.1:c.2234C>T | XP_005268906.1:p.Ala745Val | |
| XM_005268850.1:c.2102C>T | XP_005268907.1:p.Ala701Val | |
| XM_011538286.1:c.2369C>T | XP_011536588.1:p.Ala790Val | |
| XM_005268839.2:c.2708C>T | XP_005268896.1:p.Ala903Val | |
| XM_005268840.2:c.2690C>T | XP_005268897.1:p.Ala897Val | |
| XM_005268841.2:c.2708C>T | XP_005268898.1:p.Ala903Val | |
| XM_005268842.2:c.2558C>T | XP_005268899.1:p.Ala853Val | |
| XM_017019265.1:c.2318C>T | XP_016874754.1:p.Ala773Val | |
| NM_001144996.2:c.2588C>T | NP_001138468.1:p.Ala863Val | |
| NM_001367993.1:c.2249C>T | NP_001354922.1:p.Ala750Val | |
| NM_001367994.1:c.1232C>T | NP_001354923.1:p.Ala411Val | |
| NM_001374465.1:c.2558C>T | NP_001361394.1:p.Ala853Val | |
| NM_002206.3:c.2576C>T MANE Select | NP_002197.2:p.Ala859Val |