Linked Data
ClinVar Variation Id:
1023630
ClinVar RCV Id:
RCV001323711
dbSNP Id:
rs1575921940
gnomAD v3:
3-10142075-C-G
gnomAD v4:
3-10142075-C-G
PCER:
P-CER:CA351749248/193300
CIViC:
CA351749248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142075C>G , CM000665.2:g.10142075C>G | GRCh38 |
| NC_000003.11:g.10183759C>G , CM000665.1:g.10183759C>G | GRCh37 |
| NC_000003.10:g.10158759C>G | NCBI36 |
| NG_008212.3:g.5441C>G , LRG_322:g.5441C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.228C>G | ENSP00000512434.1:p.Phe76Leu | |
| ENST00000696143.1:c.228C>G | ENSP00000512435.1:p.Phe76Leu | |
| ENST00000696153.1:c.228C>G | ENSP00000512444.1:p.Phe76Leu | |
| ENST00000256474.3:c.228C>G MANE Select | ENSP00000256474.3:p.Phe76Leu | |
| ENST00000256474.2:c.228C>G | ENSP00000256474.2:p.Phe76Leu | |
| ENST00000345392.2:c.228C>G | ENSP00000344757.2:p.Phe76Leu | |
| NM_000551.3:c.228C>G , LRG_322t1:c.228C>G | NP_000542.1:p.Phe76Leu | |
| NM_198156.2:c.228C>G | NP_937799.1:p.Phe76Leu | |
| XM_011534078.1:c.228C>G | XP_011532380.1:p.Phe76Leu | |
| NM_001354723.1:c.228C>G | NP_001341652.1:p.Phe76Leu | |
| NM_000551.4:c.228C>G MANE Select | NP_000542.1:p.Phe76Leu | |
| NM_001354723.2:c.228C>G | NP_001341652.1:p.Phe76Leu | |
| NM_198156.3:c.228C>G | NP_937799.1:p.Phe76Leu |