HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005847C>A , CM000676.2:g.75005847C>A | GRCh38 |
NC_000014.8:g.75472550C>A , CM000676.1:g.75472550C>A | GRCh37 |
NC_000014.7:g.74542303C>A | NCBI36 |
NG_013333.1:g.7939C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266126.10:c.598-19C>A MANE Select | ENSP00000266126.5:n.598-19C>A | |
ENST00000266126.9:c.598-19C>A | ENSP00000266126.5:n.598-19C>A | |
ENST00000553401.5:c.577C>A | ENSP00000451681.1:p.Pro193Thr | |
ENST00000556028.5:c.598-50C>A | ENSP00000452311.1:n.598-50C>A | |
NM_014239.3:c.598-19C>A | NP_055054.1:n.598-19C>A | |
NM_014239.4:c.598-19C>A MANE Select | NP_055054.1:n.598-19C>A |