HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33302349G>T , CM000681.2:g.33302349G>T | GRCh38 |
NC_000019.9:g.33793255G>T , CM000681.1:g.33793255G>T | GRCh37 |
NC_000019.8:g.38485095G>T | NCBI36 |
NG_012022.1:g.5176C>A , LRG_456:g.5176C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000498907.3:c.66C>A MANE Select | ENSP00000427514.1:p.Pro22= | |
ENST00000498907.2:c.66C>A | ENSP00000427514.1:p.Pro22= | |
NM_001285829.1:c.-292C>A | NP_001272758.1:n.-292C>A | |
NM_001287424.1:c.171C>A | NP_001274353.1:p.Pro57= | |
NM_001287435.1:c.24C>A | NP_001274364.1:p.Pro8= | |
NM_004364.4:c.66C>A | NP_004355.2:p.Pro22= | |
NM_001287424.2:c.171C>A | NP_001274353.1:p.Pro57= | |
NM_004364.5:c.66C>A MANE Select | NP_004355.2:p.Pro22= | |
NM_001285829.2:c.-292C>A | NP_001272758.1:n.-292C>A | |
NM_001287435.2:c.24C>A | NP_001274364.1:p.Pro8= |