HGVS | Genome Assembly |
---|---|
NC_000005.10:g.151100854T>G , CM000667.2:g.151100854T>G | GRCh38 |
NC_000005.9:g.150480415T>G , CM000667.1:g.150480415T>G | GRCh37 |
NC_000005.8:g.150460608T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354546.10:c.*594A>C MANE Select | ENSP00000346550.5:n.*594A>C | |
ENST00000522664.5:c.309A>C | ||
NM_001155.4:c.*594A>C | NP_001146.2:n.*594A>C | |
NM_001193544.1:c.*594A>C | NP_001180473.1:n.*594A>C | |
NM_001363114.1:c.*594A>C | NP_001350043.1:n.*594A>C | |
NM_001155.5:c.*594A>C MANE Select | NP_001146.2:n.*594A>C | |
NM_001193544.2:c.*594A>C | NP_001180473.1:n.*594A>C | |
NM_001363114.2:c.*594A>C | NP_001350043.1:n.*594A>C |