HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66211347T>A , CM000674.2:g.66211347T>A | GRCh38 |
NC_000012.11:g.66605127T>A , CM000674.1:g.66605127T>A | GRCh37 |
NC_000012.10:g.64891394T>A | NCBI36 |
NG_021194.1:g.27150T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261233.9:c.437-99T>A MANE Select | ENSP00000261233.4:n.437-99T>A | |
ENST00000261233.8:c.437-99T>A | ENSP00000261233.4:n.437-99T>A | |
ENST00000457197.2:c.254-99T>A | ENSP00000409852.2:n.254-99T>A | |
NM_001142523.1:c.254-99T>A | NP_001135995.1:n.254-99T>A | |
NM_007199.2:c.437-99T>A | NP_009130.2:n.437-99T>A | |
NM_001142523.2:c.254-99T>A | NP_001135995.1:n.254-99T>A | |
NM_007199.3:c.437-99T>A MANE Select | NP_009130.2:n.437-99T>A |