HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28845031G>C , CM000678.2:g.28845031G>C | GRCh38 |
NC_000016.9:g.28856352G>C , CM000678.1:g.28856352G>C | GRCh37 |
NC_000016.8:g.28763853G>C | NCBI36 |
NG_008964.1:g.6378C>G | |
NG_029706.2:g.3432G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.439C>G MANE Select | ENSP00000322439.3:p.Leu147Val | |
ENST00000313511.7:c.439C>G | ENSP00000322439.3:p.Leu147Val | |
ENST00000565012.1:c.272C>G | ENSP00000455007.1:p.Pro91Arg | |
NM_003321.4:c.439C>G | NP_003312.3:p.Leu147Val | |
XM_011545928.1:c.439C>G | XP_011544230.1:p.Leu147Val | |
NM_001365360.1:c.439C>G | NP_001352289.1:p.Leu147Val | |
NM_003321.5:c.439C>G MANE Select | NP_003312.3:p.Leu147Val | |
NM_001365360.2:c.439C>G | NP_001352289.1:p.Leu147Val |