Linked Data
ClinVar Variation Id:
21428
ClinVar RCV Id:
RCV000020613
dbSNP Id:
rs104894668
PubMed:
PMID:21370513
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18594338A>C , CM000681.2:g.18594338A>C | GRCh38 |
| NC_000019.9:g.18705148A>C , CM000681.1:g.18705148A>C | GRCh37 |
| NC_000019.8:g.18566148A>C | NCBI36 |
| NG_013370.1:g.17513T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684169.1:c.1121T>G | ENSP00000506849.1:p.Leu374Arg | |
| ENST00000392386.8:c.1121T>G MANE Select | ENSP00000376188.2:p.Leu374Arg | |
| ENST00000392386.7:c.1121T>G | ENSP00000376188.2:p.Leu374Arg | |
| ENST00000594325.1:n.98T>G | ||
| NM_004750.4:c.1121T>G | NP_004741.1:p.Leu374Arg | |
| XM_011528422.1:c.1055T>G | XP_011526724.1:p.Leu352Arg | |
| XM_011528423.1:c.1121T>G | XP_011526725.1:p.Leu374Arg | |
| XM_011528424.1:c.1055T>G | XP_011526726.1:p.Leu352Arg | |
| XM_011528422.2:c.1055T>G | XP_011526724.1:p.Leu352Arg | |
| XM_011528423.2:c.1121T>G | XP_011526725.1:p.Leu374Arg | |
| XM_011528424.3:c.1055T>G | XP_011526726.1:p.Leu352Arg | |
| NM_004750.5:c.1121T>G MANE Select | NP_004741.1:p.Leu374Arg |