HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114044186G>T , CM000672.2:g.114044186G>T | GRCh38 |
NC_000010.10:g.115803945G>T , CM000672.1:g.115803945G>T | GRCh37 |
NC_000010.9:g.115793935G>T | NCBI36 |
NG_012187.1:g.5140G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369295.4:c.54G>T MANE Select | ENSP00000358301.2:p.Ser18= | |
ENST00000369295.3:c.54G>T | ENSP00000358301.2:p.Ser18= | |
NM_000684.2:c.54G>T | NP_000675.1:p.Ser18= | |
NM_000684.3:c.54G>T MANE Select | NP_000675.1:p.Ser18= |