HGVS | Genome Assembly |
---|---|
NC_000017.11:g.44352221G>C , CM000679.2:g.44352221G>C | GRCh38 |
NC_000017.10:g.42429589G>C , CM000679.1:g.42429589G>C | GRCh37 |
NC_000017.9:g.39785115G>C | NCBI36 |
NG_007886.1:g.12099G>C , LRG_661:g.12099G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000053867.8:c.1386G>C MANE Select | ENSP00000053867.2:p.Gly462= | |
ENST00000639447.1:c.1137-308G>C | ENSP00000492014.1:n.1137-308G>C | |
ENST00000053867.7:c.1386G>C | ENSP00000053867.2:p.Gly462= | |
ENST00000586242.1:c.20G>C | ||
ENST00000586443.1:c.827G>C | ||
ENST00000589265.5:c.915G>C | ENSP00000467616.1:p.Gly305= | |
NM_002087.3:c.1386G>C | NP_002078.1:p.Gly462= | |
XM_005257253.1:c.1386G>C | XP_005257310.1:p.Gly462= | |
XM_024450730.1:c.1386G>C | XP_024306498.1:p.Gly462= | |
NM_002087.4:c.1386G>C MANE Select | NP_002078.1:p.Gly462= |