HGVS | Genome Assembly |
---|---|
NC_000017.11:g.61590708T>G , CM000679.2:g.61590708T>G | GRCh38 |
NC_000017.10:g.59668069T>G , CM000679.1:g.59668069T>G | GRCh37 |
NC_000017.9:g.57022851T>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000521764.3:c.473A>C MANE Select | ENSP00000427802.1:p.Gln158Pro | |
ENST00000521764.2:c.473A>C | ENSP00000427802.1:p.Gln158Pro | |
NM_199290.3:c.473A>C | NP_954984.1:p.Gln158Pro | |
NM_199290.4:c.473A>C MANE Select | NP_954984.1:p.Gln158Pro |