Linked Data
dbSNP Id:
rs761922220
ExAC:
6:31237995 A / C
gnomAD v2:
6-31237995-A-C
gnomAD v3:
6-31270218-A-C
gnomAD v4:
6-31270218-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270218A>C , CM000668.2:g.31270218A>C | GRCh38 |
| NC_000006.11:g.31237995A>C , CM000668.1:g.31237995A>C | GRCh37 |
| NC_000006.10:g.31345974A>C | NCBI36 |
| NG_029422.2:g.6914T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.887T>G MANE Select | ENSP00000365402.5:p.Leu296Arg | |
| ENST00000376228.9:c.887T>G | ENSP00000365402.5:p.Leu296Arg | |
| ENST00000376237.8:c.*474T>G | ENSP00000365412.4:n.*474T>G | |
| ENST00000383329.7:c.887T>G | ENSP00000372819.3:p.Leu296Arg | |
| ENST00000415537.1:c.778T>G | ||
| ENST00000470363.5:n.205T>G | ||
| ENST00000487245.5:n.1246T>G | ||
| NM_002117.5:c.887T>G | NP_002108.4:p.Leu296Arg | |
| NM_002117.6:c.887T>G MANE Select | NP_002108.4:p.Leu296Arg |