HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81761503C>G , CM000665.2:g.81761503C>G | GRCh38 |
NC_000003.11:g.81810654C>G , CM000665.1:g.81810654C>G | GRCh37 |
NC_000003.10:g.81893344C>G | NCBI36 |
NG_011810.1:g.5298G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000429644.7:c.15G>C MANE Select | ENSP00000410833.2:p.Met5Ile | |
ENST00000429644.6:c.15G>C | ENSP00000410833.2:p.Met5Ile | |
NM_000158.3:c.15G>C | NP_000149.3:p.Met5Ile | |
NM_000158.4:c.15G>C MANE Select | NP_000149.4:p.Met5Ile |