HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2445114T>C , CM000673.2:g.2445114T>C | GRCh38 |
NC_000011.9:g.2466344T>C , CM000673.1:g.2466344T>C | GRCh37 |
NC_000011.8:g.2422920T>C | NCBI36 |
NG_008935.1:g.5124T>C , LRG_287:g.5124T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000496887.7:c.24-269T>C | ENSP00000434560.2:n.24-269T>C | |
ENST00000646564.2:c.16T>C | ENSP00000495806.2:p.Ser6Pro | |
ENST00000155840.12:c.16T>C MANE Select | ENSP00000155840.2:p.Ser6Pro | |
ENST00000155840.9:c.16T>C | ENSP00000155840.2:p.Ser6Pro | |
ENST00000496887.6:c.24-269T>C | ENSP00000434560.1:n.24-269T>C | |
NM_000218.2:c.16T>C , LRG_287t1:c.16T>C | NP_000209.2:p.Ser6Pro | |
NM_000218.3:c.16T>C MANE Select | NP_000209.2:p.Ser6Pro |