HGVS | Genome Assembly |
---|---|
NC_000003.12:g.184060310G>T , CM000665.2:g.184060310G>T | GRCh38 |
NC_000003.11:g.183778098G>T , CM000665.1:g.183778098G>T | GRCh37 |
NC_000003.10:g.185260792G>T | NCBI36 |
NG_012749.1:g.12264G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000318351.2:c.1302G>T MANE Select | ENSP00000322617.1:p.Met434Ile | |
ENST00000318351.1:c.1302G>T | ENSP00000322617.1:p.Met434Ile | |
NM_130770.2:c.1302G>T | NP_570126.2:p.Met434Ile | |
NM_130770.3:c.1302G>T MANE Select | NP_570126.2:p.Met434Ile |