HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320307G>A , CM000667.2:g.159320307G>A | GRCh38 |
NC_000005.9:g.158747315G>A , CM000667.1:g.158747315G>A | GRCh37 |
NC_000005.8:g.158679893G>A | NCBI36 |
NG_009618.1:g.15167C>T , LRG_71:g.15167C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696750.1:c.66C>T | ENSP00000512849.1:p.Ile22= | |
ENST00000696751.1:c.*191C>T | ENSP00000512850.1:n.*191C>T | |
ENST00000231228.3:c.696C>T MANE Select | ENSP00000231228.2:p.Ile232= | |
ENST00000231228.2:c.696C>T | ENSP00000231228.2:p.Ile232= | |
NM_002187.2:c.696C>T , LRG_71t1:c.696C>T | NP_002178.2:p.Ile232= | |
NM_002187.3:c.696C>T MANE Select | NP_002178.2:p.Ile232= |