HGVS | Genome Assembly |
---|---|
NC_000008.11:g.58603001T>G , CM000670.2:g.58603001T>G | GRCh38 |
NC_000008.10:g.59515560T>G , CM000670.1:g.59515560T>G | GRCh37 |
NC_000008.9:g.59678114T>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000038176.8:c.1045+209A>C MANE Select | ENSP00000038176.3:n.1045+209A>C | |
ENST00000649465.1:c.*1171+209A>C | ENSP00000498107.1:n.*1171+209A>C | |
ENST00000038176.7:c.1045+209A>C | ENSP00000038176.3:n.1045+209A>C | |
ENST00000427130.6:c.1138+209A>C | ENSP00000411012.2:n.1138+209A>C | |
ENST00000519858.1:n.584+209A>C | ||
NM_001144772.1:c.1138+209A>C | NP_001138244.1:n.1138+209A>C | |
NM_003580.3:c.1045+209A>C | NP_003571.2:n.1045+209A>C | |
NM_003580.4:c.1045+209A>C MANE Select | NP_003571.2:n.1045+209A>C |