HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845014C>A , CM000678.2:g.28845014C>A | GRCh38 |
NC_000016.9:g.28856335C>A , CM000678.1:g.28856335C>A | GRCh37 |
NC_000016.8:g.28763836C>A | NCBI36 |
NG_008964.1:g.6395G>T | |
NG_029706.2:g.3415C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.456G>T MANE Select | ENSP00000322439.3:p.Leu152= | |
ENST00000313511.7:c.456G>T | ENSP00000322439.3:p.Leu152= | |
ENST00000565012.1:c.289G>T | ENSP00000455007.1:p.Gly97Cys | |
NM_003321.4:c.456G>T | NP_003312.3:p.Leu152= | |
XM_011545928.1:c.456G>T | XP_011544230.1:p.Leu152= | |
NM_001365360.1:c.456G>T | NP_001352289.1:p.Leu152= | |
NM_003321.5:c.456G>T MANE Select | NP_003312.3:p.Leu152= | |
NM_001365360.2:c.456G>T | NP_001352289.1:p.Leu152= |