HGVS | Genome Assembly |
---|---|
NC_000002.12:g.21011354G>A , CM000664.2:g.21011354G>A | GRCh38 |
NC_000002.11:g.21234226G>A , CM000664.1:g.21234226G>A | GRCh37 |
NC_000002.10:g.21087731G>A | NCBI36 |
NG_011793.1:g.37720C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673739.2:c.*4820C>T | ENSP00000501110.2:n.*4820C>T | |
ENST00000673739.1:c.5228C>T | ENSP00000501110.1:n.5228C>T | |
ENST00000233242.5:c.5514C>T MANE Select | ENSP00000233242.1:p.His1838= | |
ENST00000616098.4:c.5514C>T | ENSP00000477990.1:p.His1838= | |
NM_000384.2:c.5514C>T | NP_000375.2:p.His1838= | |
XM_011532809.1:c.5514C>T | XP_011531111.1:p.His1838= | |
NM_000384.3:c.5514C>T MANE Select | NP_000375.3:p.His1838= |