HGVS | Genome Assembly |
---|---|
NC_000020.11:g.57565517C>G , CM000682.2:g.57565517C>G | GRCh38 |
NC_000020.10:g.56140573C>G , CM000682.1:g.56140573C>G | GRCh37 |
NC_000020.9:g.55573979C>G | NCBI36 |
NG_008205.1:g.9437C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000319441.6:c.1582C>G MANE Select | ENSP00000319814.4:p.Pro528Ala | |
ENST00000319441.5:c.1582C>G | ENSP00000319814.4:p.Pro528Ala | |
ENST00000467047.1:n.4224C>G | ||
NM_002591.3:c.1582C>G | NP_002582.3:p.Pro528Ala | |
XM_011528839.1:c.1186C>G | XP_011527141.1:p.Pro396Ala | |
XM_024451888.1:c.1186C>G | XP_024307656.1:p.Pro396Ala | |
NM_002591.4:c.1582C>G MANE Select | NP_002582.3:p.Pro528Ala |