HGVS | Genome Assembly |
---|---|
NC_000004.12:g.141732548A>C , CM000666.2:g.141732548A>C | GRCh38 |
NC_000004.11:g.142653701A>C , CM000666.1:g.142653701A>C | GRCh37 |
NC_000004.10:g.142873151A>C | NCBI36 |
NG_029605.1:g.100953A>C | |
NG_029605.2:g.100953A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000320650.9:c.379-190A>C MANE Select | ENSP00000323505.4:n.379-190A>C | |
ENST00000296545.11:c.379-190A>C | ENSP00000296545.7:n.379-190A>C | |
ENST00000320650.8:c.379-190A>C | ENSP00000323505.4:n.379-190A>C | |
ENST00000394159.2:c.298-190A>C | ENSP00000377714.1:n.298-190A>C | |
ENST00000477265.5:c.298-190A>C | ENSP00000436914.1:n.298-190A>C | |
ENST00000514653.5:c.298-190A>C | ENSP00000422271.1:n.298-190A>C | |
ENST00000529613.5:c.379-190A>C | ENSP00000435462.1:n.379-190A>C | |
NM_000585.4:c.379-190A>C | NP_000576.1:n.379-190A>C | |
NM_172175.2:c.298-190A>C | NP_751915.1:n.298-190A>C | |
NR_037840.2:n.1229-190A>C | ||
NM_000585.5:c.379-190A>C MANE Select | NP_000576.1:n.379-190A>C | |
NM_172175.3:c.298-190A>C | NP_751915.1:n.298-190A>C | |
NR_037840.3:n.1242-190A>C |