HGVS | Genome Assembly |
---|---|
NC_000005.10:g.148827710C>T , CM000667.2:g.148827710C>T | GRCh38 |
NC_000005.9:g.148207273C>T , CM000667.1:g.148207273C>T | GRCh37 |
NC_000005.8:g.148187466C>T | NCBI36 |
NG_016421.1:g.6118C>T | |
NG_016421.2:g.6118C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305988.6:c.879C>T MANE Select | ENSP00000305372.4:p.Asn293= | |
ENST00000305988.5:c.879C>T | ENSP00000305372.4:p.Asn293= | |
NM_000024.5:c.879C>T | NP_000015.1:p.Asn293= | |
NM_000024.6:c.879C>T MANE Select | NP_000015.2:p.Asn293= |