HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740519T>G , CM000666.2:g.67740519T>G | GRCh38 |
NC_000004.11:g.68606237T>G , CM000666.1:g.68606237T>G | GRCh37 |
NC_000004.10:g.68288832T>G | NCBI36 |
NG_009293.1:g.20568A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.948A>C MANE Select | ENSP00000226413.5:p.Pro316= | |
ENST00000226413.4:c.948A>C | ENSP00000226413.4:p.Pro316= | |
ENST00000420975.2:c.820A>C | ENSP00000397561.2:n.820A>C | |
NM_000406.2:c.948A>C | NP_000397.1:p.Pro316= | |
NM_001012763.1:c.*70A>C | NP_001012781.1:n.*70A>C | |
NM_000406.3:c.948A>C MANE Select | NP_000397.1:p.Pro316= | |
NM_001012763.2:c.*70A>C | NP_001012781.1:n.*70A>C |