HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17126761C>G , CM000672.2:g.17126761C>G | GRCh38 |
NC_000010.10:g.17168760C>G , CM000672.1:g.17168760C>G | GRCh37 |
NC_000010.9:g.17208766C>G | NCBI36 |
NG_008967.1:g.8057G>C , LRG_540:g.8057G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000377833.10:c.387G>C MANE Select | ENSP00000367064.4:p.Gln129His | |
ENST00000377823.1:c.387G>C | ENSP00000367054.1:p.Gln129His | |
ENST00000377833.8:c.387G>C | ENSP00000367064.4:p.Gln129His | |
ENST00000433666.5:c.48G>C | ENSP00000415970.1:p.Gln16His | |
NM_001081.3:c.387G>C , LRG_540t1:c.387G>C | NP_001072.2:p.Gln129His | |
XM_011519708.1:c.387G>C | XP_011518010.1:p.Gln129His | |
XM_011519708.2:c.387G>C | XP_011518010.1:p.Gln129His | |
NM_001081.4:c.387G>C MANE Select | NP_001072.2:p.Gln129His |