HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044347T>G , CM000674.2:g.5044347T>G | GRCh38 |
NC_000012.11:g.5153513T>G , CM000674.1:g.5153513T>G | GRCh37 |
NC_000012.10:g.5023774T>G | NCBI36 |
NG_012198.1:g.5429T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.200T>G MANE Select | ENSP00000252321.3:p.Leu67Trp | |
ENST00000252321.4:c.200T>G | ENSP00000252321.3:p.Leu67Trp | |
NM_002234.3:c.200T>G | NP_002225.2:p.Leu67Trp | |
NM_002234.4:c.200T>G MANE Select | NP_002225.2:p.Leu67Trp |