HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133644252T>C , CM000671.2:g.133644252T>C | GRCh38 |
NC_000009.11:g.136509374T>C , CM000671.1:g.136509374T>C | GRCh37 |
NC_000009.10:g.135499195T>C | NCBI36 |
NG_008645.1:g.12890T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000393056.8:c.956T>C MANE Select | ENSP00000376776.2:p.Phe319Ser | |
ENST00000393056.6:c.956T>C | ENSP00000376776.2:p.Phe319Ser | |
NM_000787.3:c.956T>C | NP_000778.3:p.Phe319Ser | |
NM_000787.4:c.956T>C MANE Select | NP_000778.3:p.Phe319Ser |