Linked Data
ClinVar Variation Id:
1149188
ClinVar RCV Id:
RCV001489356
dbSNP Id:
rs2107155422
MyVariant Identifiers:
chr3:g.93615514A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93896670A>G , CM000665.2:g.93896670A>G | GRCh38 |
| NC_000003.11:g.93615514A>G , CM000665.1:g.93615514A>G | GRCh37 |
| NC_000003.10:g.95098204A>G | NCBI36 |
| NG_009813.1:g.82421T>C , LRG_572:g.82421T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.871T>C | ENSP00000330021.7:p.Leu291= | |
| ENST00000394236.9:c.871T>C MANE Select | ENSP00000377783.3:p.Leu291= | |
| ENST00000407433.6:c.826T>C | ENSP00000385794.2:p.Leu276= | |
| ENST00000647936.1:c.871T>C | ENSP00000496822.1:p.Leu291= | |
| ENST00000648381.1:n.1039T>C | ||
| ENST00000648853.1:c.829T>C | ENSP00000497262.1:p.Leu277= | |
| ENST00000649103.1:c.970T>C | ENSP00000497962.1:n.970T>C | |
| ENST00000650591.1:c.967T>C | ENSP00000497376.1:p.Leu323= | |
| ENST00000394236.7:c.871T>C | ENSP00000377783.3:p.Leu291= | |
| ENST00000407433.5:c.478T>C | ENSP00000385794.1:p.Leu160= | |
| NM_000313.3:c.871T>C , LRG_572t1:c.871T>C | NP_000304.2:p.Leu291= | |
| NM_001314077.1:c.967T>C , LRG_572t2:c.967T>C | NP_001301006.1:p.Leu323= | |
| NM_000313.4:c.871T>C MANE Select | NP_000304.2:p.Leu291= | |
| NM_001314077.2:c.967T>C | NP_001301006.1:p.Leu323= |