HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101427481C>A , CM000671.2:g.101427481C>A | GRCh38 |
NC_000009.11:g.104189763C>A , CM000671.1:g.104189763C>A | GRCh37 |
NC_000009.10:g.103229584C>A | NCBI36 |
NG_012387.1:g.13300G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.540+1G>T MANE Select | ENSP00000497767.1:n.540+1G>T | |
ENST00000648064.1:c.540+1G>T | ENSP00000497990.1:n.540+1G>T | |
ENST00000648758.1:c.540+1G>T | ENSP00000497731.1:n.540+1G>T | |
ENST00000649902.1:c.540+1G>T | ENSP00000497216.1:n.540+1G>T | |
ENST00000374855.8:c.540+1G>T | ENSP00000363988.4:n.540+1G>T | |
ENST00000468981.3:n.68-843G>T | ||
ENST00000616752.1:c.540+1G>T | ENSP00000481363.1:n.540+1G>T | |
NM_000035.3:c.540+1G>T | NP_000026.2:n.540+1G>T | |
NM_000035.4:c.540+1G>T MANE Select | NP_000026.2:n.540+1G>T |