HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574090G>T , CM000685.2:g.47574090G>T | GRCh38 |
NC_000023.10:g.47433489G>T , CM000685.1:g.47433489G>T | GRCh37 |
NC_000023.9:g.47318433G>T | NCBI36 |
NG_008437.1:g.50768C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1894C>A MANE Select | ENSP00000295987.7:p.Pro632Thr | |
ENST00000340666.5:c.1894C>A | ENSP00000343206.4:p.Pro632Thr | |
ENST00000640721.1:c.70+598C>A | ENSP00000492857.1:n.70+598C>A | |
ENST00000295987.11:c.1894C>A | ENSP00000295987.7:p.Pro632Thr | |
ENST00000340666.4:c.1894C>A | ENSP00000343206.4:p.Pro632Thr | |
NM_006950.3:c.1894C>A MANE Select | NP_008881.2:p.Pro632Thr | |
NM_133499.2:c.1894C>A | NP_598006.1:p.Pro632Thr |