HGVS | Genome Assembly |
---|---|
NC_000001.11:g.162254796A>C , CM000663.2:g.162254796A>C | GRCh38 |
NC_000001.10:g.162224586A>C , CM000663.1:g.162224586A>C | GRCh37 |
NC_000001.9:g.160491210A>C | NCBI36 |
NG_015979.1:g.190006A>C | |
NG_015979.2:g.190006A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361897.10:c.178-32548A>C MANE Select | ENSP00000355133.5:n.178-32548A>C | |
ENST00000361897.9:c.178-32548A>C | ENSP00000355133.5:n.178-32548A>C | |
ENST00000430120.3:c.178-32548A>C | ENSP00000396713.3:n.178-32548A>C | |
ENST00000530878.5:c.178-32548A>C | ENSP00000431586.1:n.178-32548A>C | |
NM_001164757.1:c.178-32548A>C | NP_001158229.1:n.178-32548A>C | |
NM_014697.2:c.178-32548A>C | NP_055512.1:n.178-32548A>C | |
NM_014697.3:c.178-32548A>C MANE Select | NP_055512.1:n.178-32548A>C | |
NM_001164757.2:c.178-32548A>C | NP_001158229.1:n.178-32548A>C |