HGVS | Genome Assembly |
---|---|
NC_000016.10:g.67436016T>C , CM000678.2:g.67436016T>C | GRCh38 |
NC_000016.9:g.67469919T>C , CM000678.1:g.67469919T>C | GRCh37 |
NC_000016.8:g.66027420T>C | NCBI36 |
NG_011482.1:g.50171A>G | |
NG_016549.1:g.9884T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000326152.6:c.538T>C MANE Select | ENSP00000316786.5:p.Ser180Pro | |
ENST00000326152.5:c.538T>C | ENSP00000316786.5:p.Ser180Pro | |
ENST00000566606.1:c.516T>C | ENSP00000473429.1:n.516T>C | |
ENST00000567684.2:n.401T>C | ||
NM_000196.3:c.538T>C | NP_000187.3:p.Ser180Pro | |
NM_000196.4:c.538T>C MANE Select | NP_000187.3:p.Ser180Pro |