Linked Data
ClinVar Variation Id:
1006425
ClinVar RCV Id:
RCV001303468
dbSNP Id:
rs1379155896
gnomAD v2:
3-10184489-T-G
gnomAD v3:
3-10142805-T-G
gnomAD v4:
3-10142805-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142805T>G , CM000665.2:g.10142805T>G | GRCh38 |
| NC_000003.11:g.10184489T>G , CM000665.1:g.10184489T>G | GRCh37 |
| NC_000003.10:g.10159489T>G | NCBI36 |
| NG_008212.3:g.6171T>G , LRG_322:g.6171T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.383T>G | ENSP00000512434.1:p.Leu128Arg | |
| ENST00000696143.1:c.383T>G | ENSP00000512435.1:p.Leu128Arg | |
| ENST00000696153.1:c.340+618T>G | ENSP00000512444.1:n.340+618T>G | |
| ENST00000256474.3:c.340+618T>G MANE Select | ENSP00000256474.3:n.340+618T>G | |
| ENST00000256474.2:c.340+618T>G | ENSP00000256474.2:n.340+618T>G | |
| ENST00000345392.2:c.340+618T>G | ENSP00000344757.2:n.340+618T>G | |
| ENST00000477538.1:n.260T>G | ||
| NM_000551.3:c.340+618T>G , LRG_322t1:c.340+618T>G | NP_000542.1:n.340+618T>G | |
| NM_198156.2:c.340+618T>G | NP_937799.1:n.340+618T>G | |
| XM_011534078.1:c.383T>G | XP_011532380.1:p.Leu128Arg | |
| NM_001354723.1:c.383T>G | NP_001341652.1:p.Leu128Arg | |
| NM_000551.4:c.340+618T>G MANE Select | NP_000542.1:n.340+618T>G | |
| NM_001354723.2:c.383T>G | NP_001341652.1:p.Leu128Arg | |
| NM_198156.3:c.340+618T>G | NP_937799.1:n.340+618T>G |