HGVS | Genome Assembly |
---|---|
NC_000010.11:g.17129716A>C , CM000672.2:g.17129716A>C | GRCh38 |
NC_000010.10:g.17171715A>C , CM000672.1:g.17171715A>C | GRCh37 |
NC_000010.9:g.17211721A>C | NCBI36 |
NG_008967.1:g.5102T>G , LRG_540:g.5102T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000377833.10:c.50T>G MANE Select | ENSP00000367064.4:p.Ile17Arg | |
ENST00000377823.1:c.50T>G | ENSP00000367054.1:p.Ile17Arg | |
ENST00000377833.8:c.50T>G | ENSP00000367064.4:p.Ile17Arg | |
NM_001081.3:c.50T>G , LRG_540t1:c.50T>G | NP_001072.2:p.Ile17Arg | |
XM_011519708.1:c.50T>G | XP_011518010.1:p.Ile17Arg | |
XM_011519708.2:c.50T>G | XP_011518010.1:p.Ile17Arg | |
NM_001081.4:c.50T>G MANE Select | NP_001072.2:p.Ile17Arg |