HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354314C>T , CM000666.2:g.40354314C>T | GRCh38 |
NC_000004.11:g.40356331C>T , CM000666.1:g.40356331C>T | GRCh37 |
NC_000004.10:g.40051088C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310169.3:c.1234C>T MANE Select | ENSP00000312663.2:p.Gln412Ter | |
ENST00000310169.2:c.1234C>T | ENSP00000312663.2:p.Gln412Ter | |
NM_017581.3:c.1234C>T | NP_060051.2:p.Gln412Ter | |
NM_017581.4:c.1234C>T MANE Select | NP_060051.2:p.Gln412Ter |