HGVS | Genome Assembly |
---|---|
NC_000022.11:g.43928850C>T , CM000684.2:g.43928850C>T | GRCh38 |
NC_000022.10:g.44324730C>T , CM000684.1:g.44324730C>T | GRCh37 |
NC_000022.9:g.42656063C>T | NCBI36 |
NG_008631.1:g.10112C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216180.8:c.447C>T MANE Select | ENSP00000216180.3:p.Pro149= | |
ENST00000216180.7:c.447C>T | ENSP00000216180.3:p.Pro149= | |
ENST00000406117.6:c.*79C>T | ENSP00000384668.2:n.*79C>T | |
ENST00000423180.2:c.435C>T | ENSP00000397987.2:p.Pro145= | |
ENST00000478713.1:n.481C>T | ||
NM_025225.2:c.447C>T | NP_079501.2:p.Pro149= | |
NM_025225.3:c.447C>T MANE Select | NP_079501.2:p.Pro149= |