HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2843362A>G , CM000686.2:g.2843362A>G | GRCh38 |
NC_000024.9:g.2711403A>G , CM000686.1:g.2711403A>G | GRCh37 |
NC_000024.8:g.2771403A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000679518.1:n.327-715A>G | ||
ENST00000681787.1:n.383-715A>G | ||
ENST00000681940.1:n.107-2284A>G | ||
ENST00000250784.13:c.82-715A>G MANE Select | ENSP00000250784.7:n.82-715A>G | |
ENST00000250784.12:c.82-715A>G | ENSP00000250784.7:n.82-715A>G | |
ENST00000430575.1:c.109-715A>G | ENSP00000415317.1:n.109-715A>G | |
NM_001008.3:c.82-715A>G | NP_000999.1:n.82-715A>G | |
NM_001008.4:c.82-715A>G MANE Select | NP_000999.1:n.82-715A>G |