HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957075G>A , CM000685.2:g.154957075G>A | GRCh38 |
NC_000023.10:g.154185350G>A , CM000685.1:g.154185350G>A | GRCh37 |
NC_000023.9:g.153838544G>A | NCBI36 |
NG_011403.1:g.70649C>T | |
NG_011403.2:g.70649C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.1634C>T MANE Select | ENSP00000353393.4:p.Pro545Leu | |
ENST00000647125.1:c.*1510C>T | ENSP00000496062.1:n.*1510C>T | |
ENST00000360256.8:c.1634C>T | ENSP00000353393.4:p.Pro545Leu | |
NM_000132.3:c.1634C>T | NP_000123.1:p.Pro545Leu | |
XM_011531126.1:c.1529C>T | XP_011529428.1:p.Pro510Leu | |
NM_000132.4:c.1634C>T MANE Select | NP_000123.1:p.Pro545Leu |