HGVS | Genome Assembly |
---|---|
NC_000004.12:g.40354315A>C , CM000666.2:g.40354315A>C | GRCh38 |
NC_000004.11:g.40356332A>C , CM000666.1:g.40356332A>C | GRCh37 |
NC_000004.10:g.40051089A>C | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000310169.3:c.1235A>C MANE Select | ENSP00000312663.2:p.Gln412Pro | |
ENST00000310169.2:c.1235A>C | ENSP00000312663.2:p.Gln412Pro | |
NM_017581.3:c.1235A>C | NP_060051.2:p.Gln412Pro | |
NM_017581.4:c.1235A>C MANE Select | NP_060051.2:p.Gln412Pro |