HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29227023T>A , CM000664.2:g.29227023T>A | GRCh38 |
NC_000002.11:g.29449889T>A , CM000664.1:g.29449889T>A | GRCh37 |
NC_000002.10:g.29303393T>A | NCBI36 |
NG_009445.1:g.699544A>T , LRG_488:g.699544A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389048.8:c.2966A>T MANE Select | ENSP00000373700.3:p.His989Leu | |
ENST00000431873.6:c.132A>T | ||
ENST00000389048.7:c.2966A>T | ENSP00000373700.3:p.His989Leu | |
ENST00000618119.4:c.1835A>T | ENSP00000482733.1:p.His612Leu | |
NM_004304.4:c.2966A>T | NP_004295.2:p.His989Leu | |
XM_024452778.1:c.119A>T | XP_024308546.1:p.His40Leu | |
XR_001738688.2:n.3822A>T | ||
NM_004304.5:c.2966A>T MANE Select | NP_004295.2:p.His989Leu |