HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7527945T>C , CM000681.2:g.7527945T>C | GRCh38 |
NC_000019.9:g.7592831T>C , CM000681.1:g.7592831T>C | GRCh37 |
NC_000019.8:g.7498831T>C | NCBI36 |
NG_015806.1:g.10336T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.762T>C MANE Select | ENSP00000264079.5:p.Tyr254= | |
ENST00000264079.10:c.762T>C | ENSP00000264079.5:p.Tyr254= | |
ENST00000394321.9:n.1077T>C | ||
NM_020533.2:c.762T>C | NP_065394.1:p.Tyr254= | |
NM_020533.3:c.762T>C MANE Select | NP_065394.1:p.Tyr254= |