HGVS | Genome Assembly |
---|---|
NC_000017.11:g.29477665T>C , CM000679.2:g.29477665T>C | GRCh38 |
NC_000017.10:g.27804683T>C , CM000679.1:g.27804683T>C | GRCh37 |
NC_000017.9:g.24828809T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261716.8:c.311T>C MANE Select | ENSP00000261716.3:p.Val104Ala | |
ENST00000261716.7:c.311T>C | ENSP00000261716.3:p.Val104Ala | |
ENST00000536202.1:c.311T>C | ENSP00000438819.1:p.Val104Ala | |
NM_020791.2:c.311T>C | NP_065842.1:p.Val104Ala | |
NM_025142.1:c.311T>C | NP_079418.1:p.Val104Ala | |
XM_011525060.1:c.311T>C | XP_011523362.1:p.Val104Ala | |
XM_011525060.2:c.311T>C | XP_011523362.1:p.Val104Ala | |
NM_020791.4:c.311T>C MANE Select | NP_065842.1:p.Val104Ala |