HGVS | Genome Assembly |
---|---|
NC_000016.10:g.28844992G>C , CM000678.2:g.28844992G>C | GRCh38 |
NC_000016.9:g.28856313G>C , CM000678.1:g.28856313G>C | GRCh37 |
NC_000016.8:g.28763814G>C | NCBI36 |
NG_008964.1:g.6417C>G | |
NG_029706.2:g.3393G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313511.8:c.478C>G MANE Select | ENSP00000322439.3:p.Pro160Ala | |
ENST00000313511.7:c.478C>G | ENSP00000322439.3:p.Pro160Ala | |
ENST00000561644.1:n.16C>G | ||
ENST00000565012.1:c.*5C>G | ENSP00000455007.1:n.*5C>G | |
NM_003321.4:c.478C>G | NP_003312.3:p.Pro160Ala | |
XM_011545928.1:c.478C>G | XP_011544230.1:p.Pro160Ala | |
NM_001365360.1:c.478C>G | NP_001352289.1:p.Pro160Ala | |
NM_003321.5:c.478C>G MANE Select | NP_003312.3:p.Pro160Ala | |
NM_001365360.2:c.478C>G | NP_001352289.1:p.Pro160Ala |