HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47572868T>A , CM000685.2:g.47572868T>A | GRCh38 |
NC_000023.10:g.47432267T>A , CM000685.1:g.47432267T>A | GRCh37 |
NC_000023.9:g.47317211T>A | NCBI36 |
NG_008437.1:g.51990A>T | |
NG_016339.1:g.16752T>A | |
NG_016339.2:g.16752T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295987.13:c.2114A>T MANE Select | ENSP00000295987.7:p.Asp705Val | |
ENST00000340666.5:c.*66A>T | ENSP00000343206.4:n.*66A>T | |
ENST00000640721.1:c.164A>T | ENSP00000492857.1:p.Asp55Val | |
ENST00000295987.11:c.2114A>T | ENSP00000295987.7:p.Asp705Val | |
ENST00000340666.4:c.*66A>T | ENSP00000343206.4:n.*66A>T | |
NM_006950.3:c.2114A>T MANE Select | NP_008881.2:p.Asp705Val | |
NM_133499.2:c.*66A>T | NP_598006.1:n.*66A>T |