HGVS | Genome Assembly |
---|---|
NC_000004.12:g.4860319C>T , CM000666.2:g.4860319C>T | GRCh38 |
NC_000004.11:g.4862046C>T , CM000666.1:g.4862046C>T | GRCh37 |
NC_000004.10:g.4912947C>T | NCBI36 |
NG_008121.1:g.5655C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382723.5:c.420C>T MANE Select | ENSP00000372170.4:p.Pro140= | |
ENST00000382723.4:c.420C>T | ENSP00000372170.4:p.Pro140= | |
NM_002448.3:c.420C>T MANE Select | NP_002439.2:p.Pro140= |