HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780515C>T , CM000672.2:g.94780515C>T | GRCh38 |
NC_000010.10:g.96540272C>T , CM000672.1:g.96540272C>T | GRCh37 |
NC_000010.9:g.96530262C>T | NCBI36 |
NG_008384.2:g.22810C>T | |
NG_008384.3:g.22835C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.498C>T MANE Select | ENSP00000360372.3:p.Pro166= | |
ENST00000645461.1:n.1551C>T | ||
ENST00000371321.7:c.498C>T | ENSP00000360372.3:p.Pro166= | |
ENST00000464755.1:c.1261C>T | ENSP00000483243.1:n.1261C>T | |
NM_000769.2:c.498C>T | NP_000760.1:p.Pro166= | |
NM_000769.4:c.498C>T MANE Select | NP_000760.1:p.Pro166= |