HGVS | Genome Assembly |
---|---|
NC_000018.10:g.59269081T>G , CM000680.2:g.59269081T>G | GRCh38 |
NC_000018.9:g.56936313T>G , CM000680.1:g.56936313T>G | GRCh37 |
NC_000018.8:g.55087293T>G | NCBI36 |
NG_013031.1:g.9313A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334889.4:c.964A>C MANE Select | ENSP00000334813.3:p.Asn322His | |
ENST00000256852.7:c.*395A>C | ENSP00000256852.7:n.*395A>C | |
ENST00000334889.3:c.964A>C | ENSP00000334813.3:p.Asn322His | |
NM_013435.2:c.964A>C | NP_038463.2:p.Asn322His | |
NM_013435.3:c.964A>C MANE Select | NP_038463.2:p.Asn322His |