HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709740C>G , CM000681.2:g.6709740C>G | GRCh38 |
NC_000019.9:g.6709751C>G , CM000681.1:g.6709751C>G | GRCh37 |
NC_000019.8:g.6660751C>G | NCBI36 |
NG_009557.1:g.15912G>C , LRG_27:g.15912G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1666G>C | ENSP00000512083.1:p.Ala556Pro | |
ENST00000695654.1:c.913G>C | ENSP00000512085.1:p.Ala305Pro | |
ENST00000695655.1:c.730G>C | ENSP00000512086.1:n.730G>C | |
ENST00000695692.1:n.1153G>C | ||
ENST00000245907.11:c.1789G>C MANE Select | ENSP00000245907.4:p.Ala597Pro | |
ENST00000245907.10:c.1789G>C | ENSP00000245907.4:p.Ala597Pro | |
NM_000064.3:c.1789G>C | NP_000055.2:p.Ala597Pro | |
NM_000064.4:c.1789G>C MANE Select | NP_000055.2:p.Ala597Pro |