Revel Score:
ENST00000553804
0.222
ENST00000257879 (MANE Select)
0.222
ENST00000347027
0.222
ENST00000452168
0.222
ENST00000257880
0.222
ENST00000394230
0.222
ENST00000394229
0.222
ENST00000555728
0.222
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55695573C>G , CM000674.2:g.55695573C>G | GRCh38 |
| NC_000012.11:g.56089357C>G , CM000674.1:g.56089357C>G | GRCh37 |
| NC_000012.10:g.54375624C>G | NCBI36 |
| NG_012343.1:g.21733G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*1576G>C | ENSP00000452467.1:n.*1576G>C | |
| ENST00000554327.6:c.816G>C | ||
| ENST00000557058.2:n.816G>C | ||
| ENST00000557257.2:c.1478G>C | ENSP00000450578.2:p.Arg493Pro | |
| ENST00000557555.3:c.1964G>C | ENSP00000451039.3:p.Arg655Pro | |
| ENST00000686981.1:c.*1663G>C | ENSP00000510795.1:n.*1663G>C | |
| ENST00000691052.1:c.*436G>C | ENSP00000508886.1:n.*436G>C | |
| ENST00000691846.1:c.797G>C | ||
| ENST00000691973.1:c.1964G>C | ENSP00000509141.1:p.Arg655Pro | |
| ENST00000257879.11:c.1952G>C MANE Select | ENSP00000257879.7:p.Arg651Pro | |
| ENST00000553804.6:c.1964G>C | ENSP00000452120.1:p.Arg655Pro | |
| ENST00000257879.10:c.1952G>C | ENSP00000257879.6:p.Arg651Pro | |
| ENST00000347027.10:c.1934G>C | ENSP00000343009.6:p.Arg645Pro | |
| ENST00000452168.6:c.1673G>C | ENSP00000393844.2:p.Arg558Pro | |
| ENST00000553804.5:c.1964G>C | ENSP00000452120.1:p.Arg655Pro | |
| ENST00000554327.5:c.210G>C | ||
| ENST00000555728.5:c.2084G>C | ENSP00000452387.1:p.Arg695Pro | |
| ENST00000557058.1:n.199G>C | ||
| NM_001144996.1:c.1964G>C | NP_001138468.1:p.Arg655Pro | |
| NM_001144997.1:c.1673G>C | NP_001138469.1:p.Arg558Pro | |
| NM_002206.2:c.1952G>C | NP_002197.2:p.Arg651Pro | |
| XM_005268839.1:c.2084G>C | XP_005268896.1:p.Arg695Pro | |
| XM_005268840.1:c.2066G>C | XP_005268897.1:p.Arg689Pro | |
| XM_005268841.1:c.2084G>C | XP_005268898.1:p.Arg695Pro | |
| XM_005268842.1:c.1934G>C | XP_005268899.1:p.Arg645Pro | |
| XM_005268844.1:c.1745G>C | XP_005268901.1:p.Arg582Pro | |
| XM_005268845.1:c.1613G>C | XP_005268902.1:p.Arg538Pro | |
| XM_005268846.1:c.1613G>C | XP_005268903.1:p.Arg538Pro | |
| XM_005268847.1:c.1610G>C | XP_005268904.1:p.Arg537Pro | |
| XM_005268848.1:c.1610G>C | XP_005268905.1:p.Arg537Pro | |
| XM_005268849.1:c.1610G>C | XP_005268906.1:p.Arg537Pro | |
| XM_005268850.1:c.1478G>C | XP_005268907.1:p.Arg493Pro | |
| XM_011538286.1:c.1745G>C | XP_011536588.1:p.Arg582Pro | |
| XM_011538287.1:c.2084G>C | XP_011536589.1:p.Arg695Pro | |
| XM_005268839.2:c.2084G>C | XP_005268896.1:p.Arg695Pro | |
| XM_005268840.2:c.2066G>C | XP_005268897.1:p.Arg689Pro | |
| XM_005268841.2:c.2084G>C | XP_005268898.1:p.Arg695Pro | |
| XM_005268842.2:c.1934G>C | XP_005268899.1:p.Arg645Pro | |
| XM_017019265.1:c.1694G>C | XP_016874754.1:p.Arg565Pro | |
| NM_001144996.2:c.1964G>C | NP_001138468.1:p.Arg655Pro | |
| NM_001367993.1:c.1625G>C | NP_001354922.1:p.Arg542Pro | |
| NM_001367994.1:c.608G>C | NP_001354923.1:p.Arg203Pro | |
| NM_001374465.1:c.1934G>C | NP_001361394.1:p.Arg645Pro | |
| NM_002206.3:c.1952G>C MANE Select | NP_002197.2:p.Arg651Pro |