HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19954268T>G , CM000670.2:g.19954268T>G | GRCh38 |
NC_000008.10:g.19811779T>G , CM000670.1:g.19811779T>G | GRCh37 |
NC_000008.9:g.19856059T>G | NCBI36 |
NG_008855.1:g.20198T>G | |
NG_008855.2:g.57552T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.690T>G MANE Select | ENSP00000497642.1:p.Val230= | |
ENST00000311322.8:c.690T>G | ENSP00000309757.6:p.Val230= | |
NM_000237.2:c.690T>G | NP_000228.1:p.Val230= | |
NM_000237.3:c.690T>G MANE Select | NP_000228.1:p.Val230= |