HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50910785T>G , CM000685.2:g.50910785T>G | GRCh38 |
NC_000023.10:g.50653785T>G , CM000685.1:g.50653785T>G | GRCh37 |
NC_000023.9:g.50670525T>G | NCBI36 |
NG_012894.1:g.5002T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.2T>G MANE Select | ENSP00000252677.3:p.Met1Arg | |
ENST00000252677.3:c.2T>G | ENSP00000252677.3:p.Met1Arg | |
NM_005448.2:c.2T>G MANE Select | NP_005439.2:p.Met1Arg |