HGVS | Genome Assembly |
---|---|
NC_000001.11:g.16132058A= , CM000663.2:g.16132058A= | GRCh38 |
NC_000001.10:g.16458553A= , CM000663.1:g.16458553A= | GRCh37 |
NC_000001.9:g.16331140A= | NCBI36 |
NG_021396.1:g.29030T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358432.8:c.2325+6T= MANE Select | ENSP00000351209.5:n.2325+6T= | |
ENST00000358432.7:c.2325+6T= | ENSP00000351209.5:n.2325+6T= | |
NM_004431.3:c.2325+6T= | NP_004422.2:n.2325+6T= | |
NM_001329090.1:c.2163+6T= | NP_001316019.1:n.2163+6T= | |
NM_004431.4:c.2325+6T= | NP_004422.2:n.2325+6T= | |
NM_004431.5:c.2325+6T= MANE Select | NP_004422.2:n.2325+6T= | |
NM_001329090.2:c.2163+6T= | NP_001316019.1:n.2163+6T= |