HGVS | Genome Assembly |
---|---|
NC_000016.10:g.74713366C>G , CM000678.2:g.74713366C>G | GRCh38 |
NC_000016.9:g.74747264C>G , CM000678.1:g.74747264C>G | GRCh37 |
NC_000016.8:g.73304765C>G | NCBI36 |
NG_017070.1:g.66466G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000219368.8:c.*824G>C MANE Select | ENSP00000219368.3:n.*824G>C | |
ENST00000219368.7:c.*824G>C | ENSP00000219368.3:n.*824G>C | |
ENST00000562145.1:n.1664G>C | ||
NM_024306.4:c.*824G>C | NP_077282.3:n.*824G>C | |
XM_011523319.1:c.*824G>C | XP_011521621.1:n.*824G>C | |
XM_011523319.2:c.*824G>C | XP_011521621.1:n.*824G>C | |
NM_024306.5:c.*824G>C MANE Select | NP_077282.3:n.*824G>C |