HGVS | Genome Assembly |
---|---|
NC_000020.11:g.23049208G>T , CM000682.2:g.23049208G>T | GRCh38 |
NC_000020.10:g.23029845G>T , CM000682.1:g.23029845G>T | GRCh37 |
NC_000020.9:g.22977845G>T | NCBI36 |
NG_012027.1:g.5457C>A , LRG_168:g.5457C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377103.3:c.297C>A MANE Select | ENSP00000366307.2:p.Pro99= | |
ENST00000377103.2:c.297C>A | ENSP00000366307.2:p.Pro99= | |
NM_000361.2:c.297C>A , LRG_168t1:c.297C>A | NP_000352.1:p.Pro99= | |
NM_000361.3:c.297C>A MANE Select | NP_000352.1:p.Pro99= |