HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572960C>T , CM000685.2:g.47572960C>T | GRCh38 |
NC_000023.10:g.47432359C>T , CM000685.1:g.47432359C>T | GRCh37 |
NC_000023.9:g.47317303C>T | NCBI36 |
NG_008437.1:g.51898G>A | |
NG_016339.1:g.16844C>T | |
NG_016339.2:g.16844C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2022G>A MANE Select | ENSP00000295987.7:p.Glu674= | |
ENST00000340666.5:c.1984G>A | ENSP00000343206.4:p.Ala662Thr | |
ENST00000640721.1:c.72G>A | ENSP00000492857.1:p.Glu24= | |
ENST00000295987.11:c.2022G>A | ENSP00000295987.7:p.Glu674= | |
ENST00000340666.4:c.1984G>A | ENSP00000343206.4:p.Ala662Thr | |
NM_006950.3:c.2022G>A MANE Select | NP_008881.2:p.Glu674= | |
NM_133499.2:c.1984G>A | NP_598006.1:p.Ala662Thr |