HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101427388G= , CM000671.2:g.101427388G= | GRCh38 |
NC_000009.11:g.104189670G= , CM000671.1:g.104189670G= | GRCh37 |
NC_000009.10:g.103229491G= | NCBI36 |
NG_012387.1:g.13393C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.540+94C= MANE Select | ENSP00000497767.1:n.540+94C= | |
ENST00000648064.1:c.540+94C= | ENSP00000497990.1:n.540+94C= | |
ENST00000648758.1:c.540+94C= | ENSP00000497731.1:n.540+94C= | |
ENST00000649902.1:c.540+94C= | ENSP00000497216.1:n.540+94C= | |
ENST00000374855.8:c.540+94C= | ENSP00000363988.4:n.540+94C= | |
ENST00000468981.3:n.68-750C= | ||
ENST00000616752.1:c.540+94C= | ENSP00000481363.1:n.540+94C= | |
NM_000035.3:c.540+94C= | NP_000026.2:n.540+94C= | |
NM_000035.4:c.540+94C= MANE Select | NP_000026.2:n.540+94C= |