HGVS | Genome Assembly |
---|---|
NC_000021.9:g.44287471C= , CM000683.2:g.44287471C= | GRCh38 |
NC_000021.8:g.45707354C= , CM000683.1:g.45707354C= | GRCh37 |
NC_000021.7:g.44531782C= | NCBI36 |
NG_009556.1:g.6592C= , LRG_18:g.6592C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291582.6:c.464-46C= MANE Select | ENSP00000291582.5:n.464-46C= | |
ENST00000291582.5:c.464-46C= | ENSP00000291582.5:n.464-46C= | |
ENST00000527919.5:n.962C= | ||
ENST00000530812.5:n.970C= | ||
NM_000383.3:c.464-46C= | NP_000374.1:n.464-46C= | |
XM_011529551.1:c.464-46C= | XP_011527853.1:n.464-46C= | |
NM_000383.4:c.464-46C= MANE Select | NP_000374.1:n.464-46C= |