HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6709690C>G , CM000681.2:g.6709690C>G | GRCh38 |
NC_000019.9:g.6709701C>G , CM000681.1:g.6709701C>G | GRCh37 |
NC_000019.8:g.6660701C>G | NCBI36 |
NG_009557.1:g.15962G>C , LRG_27:g.15962G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000695652.1:c.1716G>C | ENSP00000512083.1:p.Gln572His | |
ENST00000695654.1:c.963G>C | ENSP00000512085.1:p.Gln321His | |
ENST00000695655.1:c.780G>C | ENSP00000512086.1:n.780G>C | |
ENST00000695692.1:n.1203G>C | ||
ENST00000245907.11:c.1839G>C MANE Select | ENSP00000245907.4:p.Gln613His | |
ENST00000245907.10:c.1839G>C | ENSP00000245907.4:p.Gln613His | |
NM_000064.3:c.1839G>C | NP_000055.2:p.Gln613His | |
NM_000064.4:c.1839G>C MANE Select | NP_000055.2:p.Gln613His |