HGVS | Genome Assembly |
---|---|
NC_000003.12:g.81577921T>C , CM000665.2:g.81577921T>C | GRCh38 |
NC_000003.11:g.81627072T>C , CM000665.1:g.81627072T>C | GRCh37 |
NC_000003.10:g.81709762T>C | NCBI36 |
NG_011810.1:g.188880A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000429644.7:c.1618+4A>G MANE Select | ENSP00000410833.2:n.1618+4A>G | |
ENST00000429644.6:c.1618+4A>G | ENSP00000410833.2:n.1618+4A>G | |
ENST00000484687.1:n.19+4A>G | ||
ENST00000489715.1:c.1495+4A>G | ENSP00000419638.1:n.1495+4A>G | |
NM_000158.3:c.1618+4A>G | NP_000149.3:n.1618+4A>G | |
NM_000158.4:c.1618+4A>G MANE Select | NP_000149.4:n.1618+4A>G |