HGVS | Genome Assembly |
---|---|
NC_000009.12:g.6610267G>C , CM000671.2:g.6610267G>C | GRCh38 |
NC_000009.11:g.6610267G>C , CM000671.1:g.6610267G>C | GRCh37 |
NC_000009.10:g.6600267G>C | NCBI36 |
NG_016397.1:g.40426C>G , LRG_643:g.40426C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000321612.8:c.560C>G MANE Select | ENSP00000370737.4:p.Thr187Arg | |
ENST00000639020.1:c.155C>G | ENSP00000491392.1:p.Thr52Arg | |
ENST00000639364.1:n.260C>G | ||
ENST00000639840.1:c.266C>G | ENSP00000491161.1:p.Thr89Arg | |
ENST00000639954.1:n.268C>G | ||
ENST00000640592.1:n.443C>G | ||
ENST00000321612.6:c.560C>G | ENSP00000370737.3:p.Thr187Arg | |
NM_000170.2:c.560C>G , LRG_643t1:c.560C>G | NP_000161.2:p.Thr187Arg | |
NM_000170.3:c.560C>G MANE Select | NP_000161.2:p.Thr187Arg |