HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1249417G>T , CM000673.2:g.1249417G>T | GRCh38 |
NC_000011.9:g.1270647G>T , CM000673.1:g.1270647G>T | GRCh37 |
NC_000011.8:g.1227223G>T | NCBI36 |
NG_031880.1:g.31353G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000529681.5:c.12537G>T (MUC5B) MANE Select | ENSP00000436812.1:p.Gln4179His | |
NM_002458.2:c.12537G>T (MUC5B) | NP_002449.2:p.Gln4179His | |
NR_157183.1:n.56+204C>A (MUC5B-AS1) | ||
NM_002458.3:c.12537G>T (MUC5B) MANE Select | NP_002449.2:p.Gln4179His |