Linked Data
MyVariant Identifiers:
chr7:g.31008517A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.30968902A>G , CM000669.2:g.30968902A>G | GRCh38 |
| NC_000007.13:g.31008517A>G , CM000669.1:g.31008517A>G | GRCh37 |
| NC_000007.12:g.30975042A>G | NCBI36 |
| NG_021416.1:g.9882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326139.7:c.126A>G MANE Select | ENSP00000320180.2:p.Leu42= | |
| ENST00000326139.6:c.126A>G | ENSP00000320180.2:p.Leu42= | |
| NM_000823.3:c.126A>G | NP_000814.2:p.Leu42= | |
| NM_000823.4:c.126A>G MANE Select | NP_000814.2:p.Leu42= |