HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644274A>C , CM000671.2:g.133644274A>C | GRCh38 |
NC_000009.11:g.136509396A>C , CM000671.1:g.136509396A>C | GRCh37 |
NC_000009.10:g.135499217A>C | NCBI36 |
NG_008645.1:g.12912A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.978A>C MANE Select | ENSP00000376776.2:p.Arg326Ser | |
ENST00000393056.6:c.978A>C | ENSP00000376776.2:p.Arg326Ser | |
NM_000787.3:c.978A>C | NP_000778.3:p.Arg326Ser | |
NM_000787.4:c.978A>C MANE Select | NP_000778.3:p.Arg326Ser |