HGVS | Genome Assembly |
---|---|
NC_000002.12:g.181509807A>T , CM000664.2:g.181509807A>T | GRCh38 |
NC_000002.11:g.182374534A>T , CM000664.1:g.182374534A>T | GRCh37 |
NC_000002.10:g.182082779A>T | NCBI36 |
NG_050623.1:g.57916A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397033.7:c.1845A>T MANE Select | ENSP00000380227.2:p.Thr615= | |
ENST00000397033.6:c.1845A>T | ENSP00000380227.2:p.Thr615= | |
ENST00000476824.1:n.356A>T | ||
ENST00000490435.5:n.647A>T | ||
NM_000885.4:c.1845A>T | NP_000876.3:p.Thr615= | |
NM_000885.5:c.1845A>T | NP_000876.3:p.Thr615= | |
NM_000885.6:c.1845A>T MANE Select | NP_000876.3:p.Thr615= |