HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45997619T>A , CM000683.2:g.45997619T>A | GRCh38 |
NC_000021.8:g.47417533T>A , CM000683.1:g.47417533T>A | GRCh37 |
NC_000021.7:g.46241961T>A | NCBI36 |
NG_008674.1:g.20871T>A , LRG_475:g.20871T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000683550.1:n.237-81T>A | ||
ENST00000361866.8:c.1462-81T>A MANE Select | ENSP00000355180.3:n.1462-81T>A | |
ENST00000361866.7:c.1462-81T>A | ENSP00000355180.3:n.1462-81T>A | |
ENST00000612273.1:c.1462-81T>A | ENSP00000483630.1:n.1462-81T>A | |
NM_001848.2:c.1462-81T>A , LRG_475t1:c.1462-81T>A | NP_001839.2:n.1462-81T>A | |
NM_001848.3:c.1462-81T>A MANE Select | NP_001839.2:n.1462-81T>A |