HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23392957A>T , CM000676.2:g.23392957A>T | GRCh38 |
NC_000014.8:g.23862166A>T , CM000676.1:g.23862166A>T | GRCh37 |
NC_000014.7:g.22932006A>T | NCBI36 |
NG_023444.1:g.20321T>A , LRG_389:g.20321T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000405093.9:c.3206T>A MANE Select | ENSP00000386041.3:p.Met1069Lys | |
ENST00000356287.3:c.3206T>A | ENSP00000348634.3:p.Met1069Lys | |
ENST00000405093.7:c.3206T>A | ENSP00000386041.3:p.Met1069Lys | |
NM_002471.3:c.3206T>A , LRG_389t1:c.3206T>A | NP_002462.2:p.Met1069Lys | |
NM_002471.4:c.3206T>A MANE Select | NP_002462.2:p.Met1069Lys |