HGVS | Genome Assembly |
---|---|
NC_000016.10:g.88720085G>T , CM000678.2:g.88720085G>T | GRCh38 |
NC_000016.9:g.88786493G>T , CM000678.1:g.88786493G>T | GRCh37 |
NC_000016.8:g.87313994G>T | NCBI36 |
NG_042229.1:g.70136C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000301015.14:c.6148C>A MANE Select | ENSP00000301015.9:p.Pro2050Thr | |
ENST00000466823.3:c.174C>A | ||
ENST00000301015.13:c.6148C>A | ENSP00000301015.9:p.Pro2050Thr | |
ENST00000466823.2:c.174C>A | ||
ENST00000495568.7:n.389C>A | ||
ENST00000497793.2:n.303C>A | ||
NM_001142864.2:c.6148C>A | NP_001136336.2:p.Pro2050Thr | |
NM_001142864.3:c.6148C>A | NP_001136336.2:p.Pro2050Thr | |
NM_001142864.4:c.6148C>A MANE Select | NP_001136336.2:p.Pro2050Thr |