Linked Data
ClinVar Variation Id:
652085
ClinVar RCV Id:
RCV000807574
dbSNP Id:
rs143929243
gnomAD v3:
12-55694289-C-G
gnomAD v4:
12-55694289-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55694289C>G , CM000674.2:g.55694289C>G | GRCh38 |
| NC_000012.11:g.56088073C>G , CM000674.1:g.56088073C>G | GRCh37 |
| NC_000012.10:g.54374340C>G | NCBI36 |
| NG_012343.1:g.23017G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2023G>C | ENSP00000452467.1:n.*2023G>C | |
| ENST00000554327.6:c.1070G>C | ||
| ENST00000557058.2:n.1814G>C | ||
| ENST00000557257.2:c.1925G>C | ENSP00000450578.2:p.Arg642Pro | |
| ENST00000557555.3:c.2411G>C | ENSP00000451039.3:p.Arg804Pro | |
| ENST00000686981.1:c.*2110G>C | ENSP00000510795.1:n.*2110G>C | |
| ENST00000687390.1:n.505G>C | ||
| ENST00000689678.1:n.423G>C | ||
| ENST00000691052.1:c.*883G>C | ENSP00000508886.1:n.*883G>C | |
| ENST00000691846.1:c.1212G>C | ||
| ENST00000691973.1:c.2411G>C | ENSP00000509141.1:p.Arg804Pro | |
| ENST00000257879.11:c.2399G>C MANE Select | ENSP00000257879.7:p.Arg800Pro | |
| ENST00000553804.6:c.2411G>C | ENSP00000452120.1:p.Arg804Pro | |
| ENST00000257879.10:c.2399G>C | ENSP00000257879.6:p.Arg800Pro | |
| ENST00000347027.10:c.2381G>C | ENSP00000343009.6:p.Arg794Pro | |
| ENST00000452168.6:c.2120G>C | ENSP00000393844.2:p.Arg707Pro | |
| ENST00000553804.5:c.2411G>C | ENSP00000452120.1:p.Arg804Pro | |
| ENST00000554327.5:c.464G>C | ||
| ENST00000555728.5:c.2531G>C | ENSP00000452387.1:p.Arg844Pro | |
| NM_001144996.1:c.2411G>C | NP_001138468.1:p.Arg804Pro | |
| NM_001144997.1:c.2120G>C | NP_001138469.1:p.Arg707Pro | |
| NM_002206.2:c.2399G>C | NP_002197.2:p.Arg800Pro | |
| XM_005268839.1:c.2531G>C | XP_005268896.1:p.Arg844Pro | |
| XM_005268840.1:c.2513G>C | XP_005268897.1:p.Arg838Pro | |
| XM_005268841.1:c.2531G>C | XP_005268898.1:p.Arg844Pro | |
| XM_005268842.1:c.2381G>C | XP_005268899.1:p.Arg794Pro | |
| XM_005268844.1:c.2192G>C | XP_005268901.1:p.Arg731Pro | |
| XM_005268845.1:c.2060G>C | XP_005268902.1:p.Arg687Pro | |
| XM_005268846.1:c.2060G>C | XP_005268903.1:p.Arg687Pro | |
| XM_005268847.1:c.2057G>C | XP_005268904.1:p.Arg686Pro | |
| XM_005268848.1:c.2057G>C | XP_005268905.1:p.Arg686Pro | |
| XM_005268849.1:c.2057G>C | XP_005268906.1:p.Arg686Pro | |
| XM_005268850.1:c.1925G>C | XP_005268907.1:p.Arg642Pro | |
| XM_011538286.1:c.2192G>C | XP_011536588.1:p.Arg731Pro | |
| XM_005268839.2:c.2531G>C | XP_005268896.1:p.Arg844Pro | |
| XM_005268840.2:c.2513G>C | XP_005268897.1:p.Arg838Pro | |
| XM_005268841.2:c.2531G>C | XP_005268898.1:p.Arg844Pro | |
| XM_005268842.2:c.2381G>C | XP_005268899.1:p.Arg794Pro | |
| XM_017019265.1:c.2141G>C | XP_016874754.1:p.Arg714Pro | |
| NM_001144996.2:c.2411G>C | NP_001138468.1:p.Arg804Pro | |
| NM_001367993.1:c.2072G>C | NP_001354922.1:p.Arg691Pro | |
| NM_001367994.1:c.1055G>C | NP_001354923.1:p.Arg352Pro | |
| NM_001374465.1:c.2381G>C | NP_001361394.1:p.Arg794Pro | |
| NM_002206.3:c.2399G>C MANE Select | NP_002197.2:p.Arg800Pro |