Linked Data
ClinVar Variation Id:
211211
dbSNP Id:
rs113651939
ExAC:
12:56086936 T / C
gnomAD v2:
12-56086936-T-C
gnomAD v3:
12-55693152-T-C
gnomAD v4:
12-55693152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55693152T>C , CM000674.2:g.55693152T>C | GRCh38 |
| NC_000012.11:g.56086936T>C , CM000674.1:g.56086936T>C | GRCh37 |
| NC_000012.10:g.54373203T>C | NCBI36 |
| NG_012343.1:g.24154A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553893.6:c.*2325A>G | ENSP00000452467.1:n.*2325A>G | |
| ENST00000554327.6:c.1372A>G | ||
| ENST00000557058.2:n.2116A>G | ||
| ENST00000557257.2:c.2227A>G | ENSP00000450578.2:p.Ile743Val | |
| ENST00000557555.3:c.2713A>G | ENSP00000451039.3:p.Ile905Val | |
| ENST00000686981.1:c.*2412A>G | ENSP00000510795.1:n.*2412A>G | |
| ENST00000687390.1:n.807A>G | ||
| ENST00000691052.1:c.*1185A>G | ENSP00000508886.1:n.*1185A>G | |
| ENST00000691846.1:c.1514A>G | ||
| ENST00000691973.1:c.2652+61A>G | ENSP00000509141.1:n.2652+61A>G | |
| ENST00000257879.11:c.2701A>G MANE Select | ENSP00000257879.7:p.Ile901Val | |
| ENST00000553804.6:c.2713A>G | ENSP00000452120.1:p.Ile905Val | |
| ENST00000257879.10:c.2701A>G | ENSP00000257879.6:p.Ile901Val | |
| ENST00000347027.10:c.2683A>G | ENSP00000343009.6:p.Ile895Val | |
| ENST00000452168.6:c.2422A>G | ENSP00000393844.2:p.Ile808Val | |
| ENST00000553804.5:c.2713A>G | ENSP00000452120.1:p.Ile905Val | |
| ENST00000554327.5:c.766A>G | ||
| ENST00000555728.5:c.2833A>G | ENSP00000452387.1:p.Ile945Val | |
| NM_001144996.1:c.2713A>G | NP_001138468.1:p.Ile905Val | |
| NM_001144997.1:c.2422A>G | NP_001138469.1:p.Ile808Val | |
| NM_002206.2:c.2701A>G | NP_002197.2:p.Ile901Val | |
| XM_005268839.1:c.2833A>G | XP_005268896.1:p.Ile945Val | |
| XM_005268840.1:c.2815A>G | XP_005268897.1:p.Ile939Val | |
| XM_005268841.1:c.2833A>G | XP_005268898.1:p.Ile945Val | |
| XM_005268842.1:c.2683A>G | XP_005268899.1:p.Ile895Val | |
| XM_005268844.1:c.2494A>G | XP_005268901.1:p.Ile832Val | |
| XM_005268845.1:c.2362A>G | XP_005268902.1:p.Ile788Val | |
| XM_005268846.1:c.2362A>G | XP_005268903.1:p.Ile788Val | |
| XM_005268847.1:c.2359A>G | XP_005268904.1:p.Ile787Val | |
| XM_005268848.1:c.2359A>G | XP_005268905.1:p.Ile787Val | |
| XM_005268849.1:c.2359A>G | XP_005268906.1:p.Ile787Val | |
| XM_005268850.1:c.2227A>G | XP_005268907.1:p.Ile743Val | |
| XM_011538286.1:c.2494A>G | XP_011536588.1:p.Ile832Val | |
| XM_005268839.2:c.2833A>G | XP_005268896.1:p.Ile945Val | |
| XM_005268840.2:c.2815A>G | XP_005268897.1:p.Ile939Val | |
| XM_005268841.2:c.2833A>G | XP_005268898.1:p.Ile945Val | |
| XM_005268842.2:c.2683A>G | XP_005268899.1:p.Ile895Val | |
| XM_017019265.1:c.2443A>G | XP_016874754.1:p.Ile815Val | |
| NM_001144996.2:c.2713A>G | NP_001138468.1:p.Ile905Val | |
| NM_001367993.1:c.2374A>G | NP_001354922.1:p.Ile792Val | |
| NM_001367994.1:c.1357A>G | NP_001354923.1:p.Ile453Val | |
| NM_001374465.1:c.2683A>G | NP_001361394.1:p.Ile895Val | |
| NM_002206.3:c.2701A>G MANE Select | NP_002197.2:p.Ile901Val |