HGVS | Genome Assembly |
---|---|
NC_000003.12:g.8745790A>C , CM000665.2:g.8745790A>C | GRCh38 |
NC_000003.11:g.8787476A>C , CM000665.1:g.8787476A>C | GRCh37 |
NC_000003.10:g.8762476A>C | NCBI36 |
NG_008797.2:g.16981A>C , LRG_329:g.16981A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000343849.3:c.379A>C MANE Select | ENSP00000341940.2:p.Thr127Pro | |
ENST00000343849.2:c.379A>C | ENSP00000341940.2:p.Thr127Pro | |
ENST00000397368.2:c.379A>C | ENSP00000380525.2:p.Thr127Pro | |
ENST00000472766.1:n.155+11800A>C | ||
NM_001234.4:c.379A>C | NP_001225.1:p.Thr127Pro | |
NM_033337.2:c.379A>C , LRG_329t1:c.379A>C | NP_203123.1:p.Thr127Pro | |
NM_001234.5:c.379A>C | NP_001225.1:p.Thr127Pro | |
NM_033337.3:c.379A>C MANE Select | NP_203123.1:p.Thr127Pro |