HGVS | Genome Assembly |
---|---|
NC_000016.10:g.89919379T>C , CM000678.2:g.89919379T>C | GRCh38 |
NC_000016.9:g.89985787T>C , CM000678.1:g.89985787T>C | GRCh37 |
NC_000016.8:g.88513288T>C | NCBI36 |
NG_012026.1:g.6501T>C | |
NG_027810.1:g.2371T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000555147.2:c.121T>C MANE Select | ENSP00000451605.1:p.Ser41Pro | |
ENST00000639847.1:c.121T>C | ENSP00000492011.1:p.Ser41Pro | |
ENST00000555147.1:c.121T>C | ENSP00000451605.1:p.Ser41Pro | |
ENST00000555427.1:c.121T>C | ENSP00000451760.1:p.Ser41Pro | |
ENST00000556922.1:c.121T>C | ENSP00000451560.1:p.Ser41Pro | |
NM_002386.3:c.121T>C | NP_002377.4:p.Ser41Pro | |
NM_002386.4:c.121T>C MANE Select | NP_002377.4:p.Ser41Pro |