HGVS | Genome Assembly |
---|---|
NC_000011.10:g.102842710A>C , CM000673.2:g.102842710A>C | GRCh38 |
NC_000011.9:g.102713441A>C , CM000673.1:g.102713441A>C | GRCh37 |
NC_000011.8:g.102218651A>C | NCBI36 |
NG_012100.1:g.5902T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299855.10:c.312T>G MANE Select | ENSP00000299855.5:p.Pro104= | |
ENST00000299855.9:c.312T>G | ENSP00000299855.5:p.Pro104= | |
ENST00000524478.1:c.*154T>G | ENSP00000435255.1:n.*154T>G | |
NM_002422.3:c.312T>G | NP_002413.1:p.Pro104= | |
NM_002422.4:c.312T>G | NP_002413.1:p.Pro104= | |
NM_002422.5:c.312T>G MANE Select | NP_002413.1:p.Pro104= |