HGVS | Genome Assembly |
---|---|
NC_000017.11:g.47283481A>C , CM000679.2:g.47283481A>C | GRCh38 |
NC_000017.10:g.45360847A>C , CM000679.1:g.45360847A>C | GRCh37 |
NC_000017.9:g.42715846A>C | NCBI36 |
NG_008332.2:g.34640A>C , LRG_481:g.34640A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696963.1:c.293A>C | ENSP00000513002.1:p.Lys98Thr | |
ENST00000559488.7:c.293A>C MANE Select | ENSP00000452786.2:p.Lys98Thr | |
ENST00000559488.5:c.293A>C | ENSP00000452786.1:p.Lys98Thr | |
ENST00000560629.1:c.258A>C | ||
ENST00000571680.1:c.293A>C | ENSP00000461626.1:p.Lys98Thr | |
NM_000212.2:c.293A>C , LRG_481t1:c.293A>C | NP_000203.2:p.Lys98Thr | |
NM_000212.3:c.293A>C MANE Select | NP_000203.2:p.Lys98Thr |