ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101358672T>C , CM000685.2:g.101358672T>C | GRCh38 |
| NC_000023.10:g.100613660T>C , CM000685.1:g.100613660T>C | GRCh37 |
| NC_000023.9:g.100500316T>C | NCBI36 |
| NG_009616.1:g.32553A>G , LRG_128:g.32553A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000464006.2:n.699A>G | ||
| ENST00000478995.2:n.1079A>G | ||
| ENST00000488970.2:n.1077A>G | ||
| ENST00000695614.1:c.919A>G | ENSP00000512053.1:p.Arg307Gly | |
| ENST00000695615.1:c.919A>G | ENSP00000512054.1:p.Arg307Gly | |
| ENST00000695616.1:c.*764A>G | ENSP00000512055.1:n.*764A>G | |
| ENST00000695617.1:c.916A>G | ENSP00000512056.1:p.Arg306Gly | |
| ENST00000695618.1:c.*668A>G | ENSP00000512058.1:n.*668A>G | |
| ENST00000695619.1:c.*685-235A>G | ENSP00000512059.1:n.*685-235A>G | |
| ENST00000695620.1:c.*764A>G | ENSP00000512060.1:n.*764A>G | |
| ENST00000695621.1:c.919A>G | ENSP00000512061.1:p.Arg307Gly | |
| ENST00000695622.1:c.856A>G | ENSP00000512062.1:p.Arg286Gly | |
| ENST00000695623.1:c.913A>G | ENSP00000512063.1:p.Arg305Gly | |
| ENST00000695624.1:n.224A>G | ||
| ENST00000695625.1:c.919A>G | ENSP00000512064.1:p.Arg307Gly | |
| ENST00000703407.1:c.919A>G | ENSP00000512057.1:p.Arg307Gly | |
| ENST00000308731.8:c.919A>G MANE Select | ENSP00000308176.8:p.Arg307Gly | |
| ENST00000308731.7:c.919A>G | ENSP00000308176.7:p.Arg307Gly | |
| ENST00000372880.5:c.919A>G | ENSP00000361971.1:p.Arg307Gly | |
| ENST00000618050.4:c.919A>G | ENSP00000479125.1:p.Arg307Gly | |
| ENST00000621635.4:c.1021A>G | ENSP00000483570.1:p.Arg341Gly | |
| NM_000061.2:c.919A>G , LRG_128t1:c.919A>G | NP_000052.1:p.Arg307Gly | |
| NM_001287344.1:c.1021A>G | NP_001274273.1:p.Arg341Gly | |
| NM_001287345.1:c.919A>G | NP_001274274.1:p.Arg307Gly | |
| NM_000061.3:c.919A>G MANE Select | NP_000052.1:p.Arg307Gly | |
| NM_001287344.2:c.1021A>G | NP_001274273.1:p.Arg341Gly | |
| NM_001287345.2:c.919A>G | NP_001274274.1:p.Arg307Gly |