HGVS | Genome Assembly |
---|---|
NC_000010.11:g.123034502G>A , CM000672.2:g.123034502G>A | GRCh38 |
NC_000010.10:g.124794018G>A , CM000672.1:g.124794018G>A | GRCh37 |
NC_000010.9:g.124784008G>A | NCBI36 |
NG_008003.1:g.30590G>A , LRG_451:g.30590G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358776.7:c.189G>A MANE Select | ENSP00000357873.3:p.Met63Ile | |
ENST00000358776.6:c.189G>A | ENSP00000357873.3:p.Met63Ile | |
ENST00000368869.8:c.-17G>A | ENSP00000357862.4:n.-17G>A | |
ENST00000411816.2:n.206G>A | ||
NM_001609.3:c.189G>A , LRG_451t1:c.189G>A | NP_001600.1:p.Met63Ile | |
NM_001330174.1:c.-17G>A | NP_001317103.1:n.-17G>A | |
NM_001330174.2:c.-17G>A | NP_001317103.1:n.-17G>A | |
NM_001609.4:c.189G>A MANE Select | NP_001600.1:p.Met63Ile | |
NM_001330174.3:c.-17G>A | NP_001317103.1:n.-17G>A |