Linked Data
ClinVar Variation Id:
1684994
ClinVar RCV Id:
RCV002248086
dbSNP Id:
rs748956735
ExAC:
1:55529250 T / G
gnomAD v2:
1-55529250-T-G
gnomAD v4:
1-55063577-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55063577T>G , CM000663.2:g.55063577T>G | GRCh38 |
| NC_000001.10:g.55529250T>G , CM000663.1:g.55529250T>G | GRCh37 |
| NC_000001.9:g.55301838T>G | NCBI36 |
| NG_009061.1:g.29031T>G , LRG_275:g.29031T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*412T>G | ENSP00000501161.2:n.*412T>G | |
| ENST00000710286.1:c.2429T>G | ENSP00000518176.1:p.Leu810Arg | |
| ENST00000673903.1:c.1697T>G | ENSP00000501257.1:p.Leu566Arg | |
| ENST00000302118.5:c.2072T>G MANE Select | ENSP00000303208.5:p.Leu691Arg | |
| ENST00000490692.1:n.2618T>G | ||
| NM_174936.3:c.2072T>G , LRG_275t1:c.2072T>G | NP_777596.2:p.Leu691Arg | |
| NR_110451.1:n.1679T>G | ||
| XM_011541193.1:c.1193T>G | XP_011539495.1:p.Leu398Arg | |
| NM_174936.4:c.2072T>G MANE Select | NP_777596.2:p.Leu691Arg | |
| NR_110451.2:n.1679T>G |