HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88719660T>G , CM000678.2:g.88719660T>G | GRCh38 |
NC_000016.9:g.88786068T>G , CM000678.1:g.88786068T>G | GRCh37 |
NC_000016.8:g.87313569T>G | NCBI36 |
NG_042229.1:g.70561A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301015.14:c.6385A>C MANE Select | ENSP00000301015.9:p.Thr2129Pro | |
ENST00000466823.3:c.411A>C | ||
ENST00000301015.13:c.6385A>C | ENSP00000301015.9:p.Thr2129Pro | |
ENST00000419505.5:c.151A>C | ENSP00000406358.1:p.Thr51Pro | |
ENST00000466823.2:c.411A>C | ||
ENST00000495568.7:n.626A>C | ||
ENST00000497793.2:n.540A>C | ||
NM_001142864.2:c.6385A>C | NP_001136336.2:p.Thr2129Pro | |
NM_001142864.3:c.6385A>C | NP_001136336.2:p.Thr2129Pro | |
NM_001142864.4:c.6385A>C MANE Select | NP_001136336.2:p.Thr2129Pro |