HGVS | Genome Assembly |
---|---|
NC_000004.12:g.3256614C>T , CM000666.2:g.3256614C>T | GRCh38 |
NC_000004.11:g.3258341C>T , CM000666.1:g.3258341C>T | GRCh37 |
NC_000004.10:g.3228139C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000505599.5:c.729+757C>T | ENSP00000425405.1:n.729+757C>T | |
ENST00000510580.1:c.765+721C>T | ENSP00000420966.1:n.765+721C>T | |
NM_001042690.1:c.*649C>T | NP_001036155.1:n.*649C>T | |
XM_011513464.1:c.729+757C>T | XP_011511766.1:n.729+757C>T | |
XR_924950.1:n.753+757C>T |