HGVS | Genome Assembly |
---|---|
NC_000023.11:g.37803995C= , CM000685.2:g.37803995C= | GRCh38 |
NC_000023.10:g.37663248C= , CM000685.1:g.37663248C= | GRCh37 |
NC_000023.9:g.37548192C= | NCBI36 |
NG_009065.1:g.28979C= , LRG_53:g.28979C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696170.1:c.*525C= | ENSP00000512461.1:n.*525C= | |
ENST00000696171.1:c.920C= | ENSP00000512462.1:p.Pro307= | |
ENST00000378588.5:c.1016C= MANE Select | ENSP00000367851.4:p.Pro339= | |
ENST00000378588.4:c.1016C= | ENSP00000367851.4:p.Pro339= | |
ENST00000465127.1:c.171+377995C= | ENSP00000417050.1:n.171+377995C= | |
ENST00000492288.1:n.441C= | ||
NM_000397.3:c.1016C= , LRG_53t1:c.1016C= | NP_000388.2:p.Pro339= | |
XM_011543890.1:c.710C= | XP_011542192.1:p.Pro237= | |
NM_000397.4:c.1016C= MANE Select | NP_000388.2:p.Pro339= |