Linked Data
ClinVar Variation Id:
3217577
ClinVar RCV Id:
RCV004509885
dbSNP Id:
rs143094762
ExAC:
2:48692096 C / G
gnomAD v2:
2-48692096-C-G
gnomAD v3:
2-48464957-C-G
gnomAD v4:
2-48464957-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.48464957C>G , CM000664.2:g.48464957C>G | GRCh38 |
| NC_000002.11:g.48692096C>G , CM000664.1:g.48692096C>G | GRCh37 |
| NC_000002.10:g.48545600C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294952.13:c.715C>G MANE Select | ENSP00000294952.8:p.Leu239Val | |
| ENST00000281394.8:c.715C>G | ENSP00000281394.4:p.Leu239Val | |
| ENST00000294952.12:c.715C>G | ENSP00000294952.8:p.Leu239Val | |
| ENST00000416913.5:c.*589C>G | ENSP00000414130.1:n.*589C>G | |
| ENST00000431614.5:c.*539C>G | ENSP00000406283.1:n.*539C>G | |
| ENST00000449090.6:c.715C>G | ENSP00000415696.2:p.Leu239Val | |
| NM_001135629.2:c.715C>G | NP_001129101.1:p.Leu239Val | |
| NM_001193475.1:c.715C>G | NP_001180404.1:p.Leu239Val | |
| NM_152994.4:c.715C>G | NP_694539.1:p.Leu239Val | |
| NR_024188.2:n.939C>G | ||
| XR_939654.1:n.868C>G | ||
| XR_939655.1:n.868C>G | ||
| XM_017003301.1:c.220C>G | XP_016858790.1:p.Leu74Val | |
| XM_017003302.1:c.220C>G | XP_016858791.1:p.Leu74Val | |
| XR_001738608.1:n.868C>G | ||
| XR_001738609.1:n.868C>G | ||
| NM_001135629.3:c.715C>G MANE Select | NP_001129101.1:p.Leu239Val | |
| NM_152994.5:c.715C>G | NP_694539.1:p.Leu239Val | |
| NR_024188.3:n.942C>G | ||
| NM_001193475.2:c.715C>G | NP_001180404.1:p.Leu239Val |