HGVS | Genome Assembly |
---|---|
NC_000001.11:g.25804530T>C , CM000663.2:g.25804530T>C | GRCh38 |
NC_000001.10:g.26131021T>C , CM000663.1:g.26131021T>C | GRCh37 |
NC_000001.9:g.26003608T>C | NCBI36 |
NG_009930.1:g.9355T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000354177.9:c.302-612T>C | ENSP00000346109.5:n.302-612T>C | |
ENST00000494537.2:c.302-612T>C | ENSP00000508308.1:n.302-612T>C | |
ENST00000361547.7:c.404-612T>C MANE Select | ENSP00000355141.2:n.404-612T>C | |
ENST00000354177.8:c.302-612T>C | ENSP00000346109.4:n.302-612T>C | |
ENST00000361547.6:c.404-612T>C | ENSP00000355141.2:n.404-612T>C | |
ENST00000374315.1:c.302-612T>C | ENSP00000363434.1:n.302-612T>C | |
NM_020451.2:c.404-612T>C | NP_065184.2:n.404-612T>C | |
NM_206926.1:c.302-612T>C | NP_996809.1:n.302-612T>C | |
NM_020451.3:c.404-612T>C MANE Select | NP_065184.2:n.404-612T>C | |
NM_206926.2:c.302-612T>C | NP_996809.1:n.302-612T>C |