HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354313T>A , CM000666.2:g.40354313T>A | GRCh38 |
NC_000004.11:g.40356330T>A , CM000666.1:g.40356330T>A | GRCh37 |
NC_000004.10:g.40051087T>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310169.3:c.1233T>A MANE Select | ENSP00000312663.2:p.Pro411= | |
ENST00000310169.2:c.1233T>A | ENSP00000312663.2:p.Pro411= | |
NM_017581.3:c.1233T>A | NP_060051.2:p.Pro411= | |
NM_017581.4:c.1233T>A MANE Select | NP_060051.2:p.Pro411= |