HGVS | Genome Assembly |
---|---|
NC_000006.12:g.18122097A>C , CM000668.2:g.18122097A>C | GRCh38 |
NC_000006.11:g.18122328A>C , CM000668.1:g.18122328A>C | GRCh37 |
NC_000006.10:g.18230307A>C | NCBI36 |
NG_016750.1:g.5524T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340650.6:c.510T>G MANE Select | ENSP00000345464.3:p.Ala170= | |
ENST00000340650.4:c.510T>G | ENSP00000345464.3:p.Ala170= | |
NM_198586.2:c.510T>G | NP_940988.2:p.Ala170= | |
NM_198586.3:c.510T>G MANE Select | NP_940988.2:p.Ala170= |