Linked Data
ClinVar Variation Id:
526676
ClinVar RCV Id:
RCV000631272
dbSNP Id:
rs199959170
ExAC:
3:10183674 T / G
gnomAD v2:
3-10183674-T-G
gnomAD v4:
3-10141990-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141990T>G , CM000665.2:g.10141990T>G | GRCh38 |
| NC_000003.11:g.10183674T>G , CM000665.1:g.10183674T>G | GRCh37 |
| NC_000003.10:g.10158674T>G | NCBI36 |
| NG_008212.3:g.5356T>G , LRG_322:g.5356T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.143T>G | ENSP00000512434.1:p.Leu48Arg | |
| ENST00000696143.1:c.143T>G | ENSP00000512435.1:p.Leu48Arg | |
| ENST00000696153.1:c.143T>G | ENSP00000512444.1:p.Leu48Arg | |
| ENST00000256474.3:c.143T>G MANE Select | ENSP00000256474.3:p.Leu48Arg | |
| ENST00000256474.2:c.143T>G | ENSP00000256474.2:p.Leu48Arg | |
| ENST00000345392.2:c.143T>G | ENSP00000344757.2:p.Leu48Arg | |
| NM_000551.3:c.143T>G , LRG_322t1:c.143T>G | NP_000542.1:p.Leu48Arg | |
| NM_198156.2:c.143T>G | NP_937799.1:p.Leu48Arg | |
| XM_011534078.1:c.143T>G | XP_011532380.1:p.Leu48Arg | |
| NM_001354723.1:c.143T>G | NP_001341652.1:p.Leu48Arg | |
| NM_000551.4:c.143T>G MANE Select | NP_000542.1:p.Leu48Arg | |
| NM_001354723.2:c.143T>G | NP_001341652.1:p.Leu48Arg | |
| NM_198156.3:c.143T>G | NP_937799.1:p.Leu48Arg |