HGVS | Genome Assembly |
---|---|
NC_000002.12:g.208129622G>A , CM000664.2:g.208129622G>A | GRCh38 |
NC_000002.11:g.208994346G>A , CM000664.1:g.208994346G>A | GRCh37 |
NC_000002.10:g.208702591G>A | NCBI36 |
NG_008038.1:g.5209C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000282141.4:c.71C>T MANE Select | ENSP00000282141.3:p.Pro24Leu | |
ENST00000282141.3:c.71C>T | ENSP00000282141.3:p.Pro24Leu | |
NM_020989.3:c.71C>T | NP_066269.1:p.Pro24Leu | |
NR_038437.1:n.98-7434G>A | ||
XM_011510661.1:c.71C>T | XP_011508963.1:p.Pro24Leu | |
XM_011510662.1:c.71C>T | XP_011508964.1:p.Pro24Leu | |
XM_011510663.1:c.-59C>T | XP_011508965.1:n.-59C>T | |
NM_020989.4:c.71C>T MANE Select | NP_066269.1:p.Pro24Leu |