HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75005860T= , CM000676.2:g.75005860T= | GRCh38 |
NC_000014.8:g.75472563T= , CM000676.1:g.75472563T= | GRCh37 |
NC_000014.7:g.74542316T= | NCBI36 |
NG_013333.1:g.7952T= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266126.10:c.598-6T= MANE Select | ENSP00000266126.5:n.598-6T= | |
ENST00000266126.9:c.598-6T= | ENSP00000266126.5:n.598-6T= | |
ENST00000553401.5:c.590T= | ENSP00000451681.1:p.Ile197= | |
ENST00000556028.5:c.598-37T= | ENSP00000452311.1:n.598-37T= | |
NM_014239.3:c.598-6T= | NP_055054.1:n.598-6T= | |
NM_014239.4:c.598-6T= MANE Select | NP_055054.1:n.598-6T= |