HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29226977G= , CM000664.2:g.29226977G= | GRCh38 |
NC_000002.11:g.29449843G= , CM000664.1:g.29449843G= | GRCh37 |
NC_000002.10:g.29303347G= | NCBI36 |
NG_009445.1:g.699590C= , LRG_488:g.699590C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.3012C= MANE Select | ENSP00000373700.3:p.Val1004= | |
ENST00000431873.6:c.178C= | ||
ENST00000389048.7:c.3012C= | ENSP00000373700.3:p.Val1004= | |
ENST00000618119.4:c.1881C= | ENSP00000482733.1:p.Val627= | |
NM_004304.4:c.3012C= | NP_004295.2:p.Val1004= | |
XM_024452778.1:c.165C= | XP_024308546.1:p.Val55= | |
XR_001738688.2:n.3868C= | ||
NM_004304.5:c.3012C= MANE Select | NP_004295.2:p.Val1004= |