HGVS | Genome Assembly |
---|---|
NC_000010.11:g.100045621A>G , CM000672.2:g.100045621A>G | GRCh38 |
NC_000010.10:g.101805378A>G , CM000672.1:g.101805378A>G | GRCh37 |
NC_000010.9:g.101795368A>G | NCBI36 |
NG_012060.1:g.41265T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370418.8:c.1231-3048T>C MANE Select | ENSP00000359446.3:n.1231-3048T>C | |
ENST00000370418.7:c.1231-3048T>C | ENSP00000359446.3:n.1231-3048T>C | |
NM_001308.2:c.1231-3048T>C | NP_001299.1:n.1231-3048T>C | |
XM_011539299.1:c.1273-3048T>C | XP_011537601.1:n.1273-3048T>C | |
NM_001308.3:c.1231-3048T>C MANE Select | NP_001299.1:n.1231-3048T>C |