HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044919T>G , CM000674.2:g.5044919T>G | GRCh38 |
NC_000012.11:g.5154085T>G , CM000674.1:g.5154085T>G | GRCh37 |
NC_000012.10:g.5024346T>G | NCBI36 |
NG_012198.1:g.6001T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.772T>G MANE Select | ENSP00000252321.3:p.Leu258Val | |
ENST00000252321.4:c.772T>G | ENSP00000252321.3:p.Leu258Val | |
NM_002234.3:c.772T>G | NP_002225.2:p.Leu258Val | |
NM_002234.4:c.772T>G MANE Select | NP_002225.2:p.Leu258Val |