HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94404876G>C , CM000669.2:g.94404876G>C | GRCh38 |
NC_000007.13:g.94034188G>C , CM000669.1:g.94034188G>C | GRCh37 |
NC_000007.12:g.93872124G>C | NCBI36 |
NG_007405.1:g.15316G>C , LRG_2:g.15316G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.416G>C MANE Select | ENSP00000297268.6:p.Gly139Ala | |
ENST00000297268.10:c.416G>C | ENSP00000297268.6:p.Gly139Ala | |
ENST00000620463.1:c.410G>C | ENSP00000477719.1:p.Gly137Ala | |
NM_000089.3:c.416G>C , LRG_2t1:c.416G>C | NP_000080.2:p.Gly139Ala | |
NM_000089.4:c.416G>C MANE Select | NP_000080.2:p.Gly139Ala |