HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586407A>G , CM000679.2:g.41586407A>G | GRCh38 |
NC_000017.10:g.39742659A>G , CM000679.1:g.39742659A>G | GRCh37 |
NC_000017.9:g.36996185A>G | NCBI36 |
NG_008624.1:g.5489T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.428T>C MANE Select | ENSP00000167586.6:p.Leu143Pro | |
ENST00000167586.6:c.428T>C | ENSP00000167586.6:p.Leu143Pro | |
NM_000526.4:c.428T>C | NP_000517.2:p.Leu143Pro | |
NM_000526.5:c.428T>C MANE Select | NP_000517.3:p.Leu143Pro |