Linked Data
dbSNP Id:
rs41556617
gnomAD v4:
6-31270009-A-C
MyVariant Identifiers:
chr6:g.31237786A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270009A>C , CM000668.2:g.31270009A>C | GRCh38 |
| NC_000006.11:g.31237786A>C , CM000668.1:g.31237786A>C | GRCh37 |
| NC_000006.10:g.31345765A>C | NCBI36 |
| NG_029422.2:g.7123T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.972T>G MANE Select | ENSP00000365402.5:p.Leu324= | |
| ENST00000376228.9:c.972T>G | ENSP00000365402.5:p.Leu324= | |
| ENST00000376237.8:c.*559T>G | ENSP00000365412.4:n.*559T>G | |
| ENST00000383329.7:c.972T>G | ENSP00000372819.3:p.Leu324= | |
| ENST00000470363.5:n.290T>G | ||
| ENST00000487245.5:n.1331T>G | ||
| NM_002117.5:c.972T>G | NP_002108.4:p.Leu324= | |
| NM_002117.6:c.972T>G MANE Select | NP_002108.4:p.Leu324= |