HGVS | Genome Assembly |
---|---|
NC_000017.11:g.56594517G>C , CM000679.2:g.56594517G>C | GRCh38 |
NC_000017.10:g.54671878G>C , CM000679.1:g.54671878G>C | GRCh37 |
NC_000017.9:g.52026877G>C | NCBI36 |
NG_011958.1:g.5819G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000332822.6:c.294G>C MANE Select | ENSP00000328181.4:p.Ala98= | |
ENST00000332822.4:c.294G>C | ENSP00000328181.4:p.Ala98= | |
NM_005450.4:c.294G>C | NP_005441.1:p.Ala98= | |
NM_005450.6:c.294G>C MANE Select | NP_005441.1:p.Ala98= |