Linked Data
ClinVar Variation Id:
2086054
ClinVar RCV Id:
RCV003015388
dbSNP Id:
rs778562750
ExAC:
3:93619668 A / C
gnomAD v2:
3-93619668-A-C
gnomAD v3:
3-93900824-A-C
gnomAD v4:
3-93900824-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93900824A>C , CM000665.2:g.93900824A>C | GRCh38 |
| NC_000003.11:g.93619668A>C , CM000665.1:g.93619668A>C | GRCh37 |
| NC_000003.10:g.95102358A>C | NCBI36 |
| NG_009813.1:g.78267T>G , LRG_572:g.78267T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.707T>G | ENSP00000330021.7:p.Leu236Arg | |
| ENST00000394236.9:c.707T>G MANE Select | ENSP00000377783.3:p.Leu236Arg | |
| ENST00000407433.6:c.662T>G | ENSP00000385794.2:p.Leu221Arg | |
| ENST00000647936.1:c.707T>G | ENSP00000496822.1:p.Leu236Arg | |
| ENST00000648381.1:n.875T>G | ||
| ENST00000648853.1:c.665T>G | ENSP00000497262.1:p.Leu222Arg | |
| ENST00000649103.1:c.806T>G | ENSP00000497962.1:n.806T>G | |
| ENST00000650591.1:c.803T>G | ENSP00000497376.1:p.Leu268Arg | |
| ENST00000394236.7:c.707T>G | ENSP00000377783.3:p.Leu236Arg | |
| ENST00000407433.5:c.314T>G | ENSP00000385794.1:p.Leu105Arg | |
| NM_000313.3:c.707T>G , LRG_572t1:c.707T>G | NP_000304.2:p.Leu236Arg | |
| NM_001314077.1:c.803T>G , LRG_572t2:c.803T>G | NP_001301006.1:p.Leu268Arg | |
| NM_000313.4:c.707T>G MANE Select | NP_000304.2:p.Leu236Arg | |
| NM_001314077.2:c.803T>G | NP_001301006.1:p.Leu268Arg |