HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159326997T>C , CM000667.2:g.159326997T>C | GRCh38 |
NC_000005.9:g.158754005T>C , CM000667.1:g.158754005T>C | GRCh37 |
NC_000005.8:g.158686583T>C | NCBI36 |
NG_009618.1:g.8477A>G , LRG_71:g.8477A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.-149+3435A>G | ENSP00000512849.1:n.-149+3435A>G | |
ENST00000696751.1:c.1-215A>G | ENSP00000512850.1:n.1-215A>G | |
ENST00000696752.1:n.433-215A>G | ||
ENST00000231228.3:c.1-215A>G MANE Select | ENSP00000231228.2:n.1-215A>G | |
ENST00000231228.2:c.1-215A>G | ENSP00000231228.2:n.1-215A>G | |
NM_002187.2:c.1-215A>G , LRG_71t1:c.1-215A>G | NP_002178.2:n.1-215A>G | |
NM_002187.3:c.1-215A>G MANE Select | NP_002178.2:n.1-215A>G |