HGVS | Genome Assembly |
---|---|
NC_000018.10:g.60371607G>T , CM000680.2:g.60371607G>T | GRCh38 |
NC_000018.9:g.58038840G>T , CM000680.1:g.58038840G>T | GRCh37 |
NC_000018.8:g.56189820G>T | NCBI36 |
NG_016441.1:g.6162C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299766.5:c.743C>A MANE Select | ENSP00000299766.3:p.Thr248Asn | |
ENST00000299766.4:c.743C>A | ENSP00000299766.3:p.Thr248Asn | |
NM_005912.2:c.743C>A | NP_005903.2:p.Thr248Asn | |
NM_005912.3:c.743C>A MANE Select | NP_005903.2:p.Thr248Asn |