HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33669090T>A , CM000668.2:g.33669090T>A | GRCh38 |
NC_000006.11:g.33636867T>A , CM000668.1:g.33636867T>A | GRCh37 |
NC_000006.10:g.33744845T>A | NCBI36 |
NG_027729.1:g.52712T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000605930.3:c.2123T>A MANE Select | ENSP00000475177.1:p.Val708Glu | |
ENST00000374316.9:c.2123T>A | ENSP00000363435.4:p.Val708Glu | |
ENST00000605930.2:c.2123T>A | ENSP00000475177.1:p.Val708Glu | |
NM_002224.3:c.2123T>A | NP_002215.2:p.Val708Glu | |
XM_011514576.1:c.2192T>A | XP_011512878.1:p.Val731Glu | |
XM_011514577.1:c.1940T>A | XP_011512879.1:p.Val647Glu | |
XM_011514577.3:c.1940T>A | XP_011512879.1:p.Val647Glu | |
XM_017010832.1:c.2123T>A | XP_016866321.1:p.Val708Glu | |
NM_002224.4:c.2123T>A MANE Select | NP_002215.2:p.Val708Glu |