HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48411074T>G , CM000677.2:g.48411074T>G | GRCh38 |
NC_000015.9:g.48703271T>G , CM000677.1:g.48703271T>G | GRCh37 |
NC_000015.8:g.46490563T>G | NCBI36 |
NG_008805.2:g.239715A>C , LRG_778:g.239715A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.*1340A>C | ENSP00000453958.2:n.*1340A>C | |
ENST00000682158.1:n.1913A>C | ||
ENST00000682170.1:n.2713A>C | ||
ENST00000682767.1:n.1829A>C | ||
ENST00000316623.10:c.8532A>C MANE Select | ENSP00000325527.5:p.Gln2844His | |
ENST00000316623.9:c.8532A>C | ENSP00000325527.5:p.Gln2844His | |
ENST00000559133.5:c.3901A>C | ||
NM_000138.4:c.8532A>C , LRG_778t1:c.8532A>C | NP_000129.3:p.Gln2844His | |
NM_000138.5:c.8532A>C MANE Select | NP_000129.3:p.Gln2844His |