HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2843347C>T , CM000686.2:g.2843347C>T | GRCh38 |
NC_000024.9:g.2711388C>T , CM000686.1:g.2711388C>T | GRCh37 |
NC_000024.8:g.2771388C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.327-730C>T | ||
ENST00000681787.1:n.383-730C>T | ||
ENST00000681940.1:n.107-2299C>T | ||
ENST00000250784.13:c.82-730C>T MANE Select | ENSP00000250784.7:n.82-730C>T | |
ENST00000250784.12:c.82-730C>T | ENSP00000250784.7:n.82-730C>T | |
ENST00000430575.1:c.109-730C>T | ENSP00000415317.1:n.109-730C>T | |
NM_001008.3:c.82-730C>T | NP_000999.1:n.82-730C>T | |
NM_001008.4:c.82-730C>T MANE Select | NP_000999.1:n.82-730C>T |