ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0000347 (AFR)
Genomes Max Group AF
0.00000799 (AFR)
Exomes Max Group AF
0.00003983 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219076447T>G , CM000664.2:g.219076447T>G | GRCh38 |
| NC_000002.11:g.219941169T>G , CM000664.1:g.219941169T>G | GRCh37 |
| NC_000002.10:g.219649413T>G | NCBI36 |
| NG_007880.1:g.89419A>C , LRG_90:g.89419A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426304.6:c.849A>C | ENSP00000394896.2:p.Ser283= | |
| ENST00000457600.3:c.834A>C | ENSP00000407201.2:p.Ser278= | |
| ENST00000698174.1:c.834A>C | ENSP00000513594.1:p.Ser278= | |
| ENST00000698175.1:c.*581A>C | ENSP00000513595.1:n.*581A>C | |
| ENST00000698202.1:c.834A>C | ENSP00000513605.1:p.Ser278= | |
| ENST00000698203.1:c.834A>C | ENSP00000513606.1:p.Ser278= | |
| ENST00000356853.10:c.834A>C MANE Select | ENSP00000349313.5:p.Ser278= | |
| ENST00000318673.6:c.*1956A>C | ENSP00000320919.3:n.*1956A>C | |
| ENST00000356853.9:c.834A>C | ENSP00000349313.5:p.Ser278= | |
| ENST00000409720.5:c.826-2A>C | ENSP00000387290.1:n.826-2A>C | |
| ENST00000418099.5:c.*217A>C | ENSP00000408966.1:n.*217A>C | |
| ENST00000426304.5:c.609A>C | ENSP00000394896.1:p.Ser203= | |
| ENST00000483627.1:n.518A>C | ||
| ENST00000491159.5:n.443A>C | ||
| ENST00000494211.5:n.400A>C | ||
| ENST00000498327.5:n.3104A>C | ||
| NM_024782.2:c.834A>C , LRG_90t1:c.834A>C | NP_079058.1:p.Ser278= | |
| NM_001377498.1:c.834A>C | NP_001364427.1:p.Ser278= | |
| NM_001377499.1:c.849A>C | NP_001364428.1:p.Ser283= | |
| NM_024782.3:c.834A>C MANE Select | NP_079058.1:p.Ser278= | |
| NR_165304.1:n.1012A>C |