HGVS | Genome Assembly |
---|---|
NC_000010.11:g.114045049C>T , CM000672.2:g.114045049C>T | GRCh38 |
NC_000010.10:g.115804808C>T , CM000672.1:g.115804808C>T | GRCh37 |
NC_000010.9:g.115794798C>T | NCBI36 |
NG_012187.1:g.6003C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369295.4:c.917C>T MANE Select | ENSP00000358301.2:p.Ala306Val | |
ENST00000369295.3:c.917C>T | ENSP00000358301.2:p.Ala306Val | |
NM_000684.2:c.917C>T | NP_000675.1:p.Ala306Val | |
NM_000684.3:c.917C>T MANE Select | NP_000675.1:p.Ala306Val |