HGVS | Genome Assembly |
---|---|
NC_000014.9:g.75009083C>T , CM000676.2:g.75009083C>T | GRCh38 |
NC_000014.8:g.75475786C>T , CM000676.1:g.75475786C>T | GRCh37 |
NC_000014.7:g.74545539C>T | NCBI36 |
NG_013333.1:g.11175C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000266126.10:c.951C>T MANE Select | ENSP00000266126.5:p.Pro317= | |
ENST00000266126.9:c.951C>T | ENSP00000266126.5:p.Pro317= | |
ENST00000556668.1:n.531C>T | ||
NM_014239.3:c.951C>T | NP_055054.1:p.Pro317= | |
NM_014239.4:c.951C>T MANE Select | NP_055054.1:p.Pro317= |