HGVS | Genome Assembly |
---|---|
NC_000011.10:g.1248477C>T , CM000673.2:g.1248477C>T | GRCh38 |
NC_000011.9:g.1269707C>T , CM000673.1:g.1269707C>T | GRCh37 |
NC_000011.8:g.1226283C>T | NCBI36 |
NG_031880.1:g.30413C>T |
HGVS | Amino-acid Change |
---|---|
NM_002458.3:c.11597C>T (MUC5B) MANE Select | NP_002449.2:p.Pro3866Leu |
ENST00000529681.5:c.11597C>T (MUC5B) MANE Select | ENSP00000436812.1:p.Pro3866Leu |
NM_002458.2:c.11597C>T (MUC5B) | NP_002449.2:p.Pro3866Leu |
NR_157183.1:n.56+1144G>A (MUC5B-AS1) |