HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411052C>G , CM000677.2:g.48411052C>G | GRCh38 |
NC_000015.9:g.48703249C>G , CM000677.1:g.48703249C>G | GRCh37 |
NC_000015.8:g.46490541C>G | NCBI36 |
NG_008805.2:g.239737G>C , LRG_778:g.239737G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.*1362G>C | ENSP00000453958.2:n.*1362G>C | |
ENST00000682158.1:n.1935G>C | ||
ENST00000682170.1:n.2735G>C | ||
ENST00000682767.1:n.1851G>C | ||
ENST00000316623.10:c.8554G>C MANE Select | ENSP00000325527.5:p.Asp2852His | |
ENST00000316623.9:c.8554G>C | ENSP00000325527.5:p.Asp2852His | |
ENST00000559133.5:c.3923G>C | ||
NM_000138.4:c.8554G>C , LRG_778t1:c.8554G>C | NP_000129.3:p.Asp2852His | |
NM_000138.5:c.8554G>C MANE Select | NP_000129.3:p.Asp2852His |