Linked Data
ClinVar Variation Id:
1389230
ClinVar RCV Id:
RCV001887067
dbSNP Id:
rs771755133
ExAC:
12:56087057 G / C
gnomAD v2:
12-56087057-G-C
gnomAD v4:
12-55693273-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55693273G>C , CM000674.2:g.55693273G>C | GRCh38 |
| NC_000012.11:g.56087057G>C , CM000674.1:g.56087057G>C | GRCh37 |
| NC_000012.10:g.54373324G>C | NCBI36 |
| NG_012343.1:g.24033C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553893.6:c.*2204C>G | ENSP00000452467.1:n.*2204C>G | |
| ENST00000554327.6:c.1251C>G | ||
| ENST00000557058.2:n.1995C>G | ||
| ENST00000557257.2:c.2106C>G | ENSP00000450578.2:p.Phe702Leu | |
| ENST00000557555.3:c.2592C>G | ENSP00000451039.3:p.Phe864Leu | |
| ENST00000686981.1:c.*2291C>G | ENSP00000510795.1:n.*2291C>G | |
| ENST00000687390.1:n.686C>G | ||
| ENST00000691052.1:c.*1064C>G | ENSP00000508886.1:n.*1064C>G | |
| ENST00000691846.1:c.1393C>G | ||
| ENST00000691973.1:c.2592C>G | ENSP00000509141.1:p.Phe864Leu | |
| ENST00000257879.11:c.2580C>G MANE Select | ENSP00000257879.7:p.Phe860Leu | |
| ENST00000553804.6:c.2592C>G | ENSP00000452120.1:p.Phe864Leu | |
| ENST00000257879.10:c.2580C>G | ENSP00000257879.6:p.Phe860Leu | |
| ENST00000347027.10:c.2562C>G | ENSP00000343009.6:p.Phe854Leu | |
| ENST00000452168.6:c.2301C>G | ENSP00000393844.2:p.Phe767Leu | |
| ENST00000553804.5:c.2592C>G | ENSP00000452120.1:p.Phe864Leu | |
| ENST00000554327.5:c.645C>G | ||
| ENST00000555728.5:c.2712C>G | ENSP00000452387.1:p.Phe904Leu | |
| NM_001144996.1:c.2592C>G | NP_001138468.1:p.Phe864Leu | |
| NM_001144997.1:c.2301C>G | NP_001138469.1:p.Phe767Leu | |
| NM_002206.2:c.2580C>G | NP_002197.2:p.Phe860Leu | |
| XM_005268839.1:c.2712C>G | XP_005268896.1:p.Phe904Leu | |
| XM_005268840.1:c.2694C>G | XP_005268897.1:p.Phe898Leu | |
| XM_005268841.1:c.2712C>G | XP_005268898.1:p.Phe904Leu | |
| XM_005268842.1:c.2562C>G | XP_005268899.1:p.Phe854Leu | |
| XM_005268844.1:c.2373C>G | XP_005268901.1:p.Phe791Leu | |
| XM_005268845.1:c.2241C>G | XP_005268902.1:p.Phe747Leu | |
| XM_005268846.1:c.2241C>G | XP_005268903.1:p.Phe747Leu | |
| XM_005268847.1:c.2238C>G | XP_005268904.1:p.Phe746Leu | |
| XM_005268848.1:c.2238C>G | XP_005268905.1:p.Phe746Leu | |
| XM_005268849.1:c.2238C>G | XP_005268906.1:p.Phe746Leu | |
| XM_005268850.1:c.2106C>G | XP_005268907.1:p.Phe702Leu | |
| XM_011538286.1:c.2373C>G | XP_011536588.1:p.Phe791Leu | |
| XM_005268839.2:c.2712C>G | XP_005268896.1:p.Phe904Leu | |
| XM_005268840.2:c.2694C>G | XP_005268897.1:p.Phe898Leu | |
| XM_005268841.2:c.2712C>G | XP_005268898.1:p.Phe904Leu | |
| XM_005268842.2:c.2562C>G | XP_005268899.1:p.Phe854Leu | |
| XM_017019265.1:c.2322C>G | XP_016874754.1:p.Phe774Leu | |
| NM_001144996.2:c.2592C>G | NP_001138468.1:p.Phe864Leu | |
| NM_001367993.1:c.2253C>G | NP_001354922.1:p.Phe751Leu | |
| NM_001367994.1:c.1236C>G | NP_001354923.1:p.Phe412Leu | |
| NM_001374465.1:c.2562C>G | NP_001361394.1:p.Phe854Leu | |
| NM_002206.3:c.2580C>G MANE Select | NP_002197.2:p.Phe860Leu |