HGVS | Genome Assembly |
---|---|
NC_000020.11:g.59038947A>G , CM000682.2:g.59038947A>G | GRCh38 |
NC_000020.10:g.57614002A>G , CM000682.1:g.57614002A>G | GRCh37 |
NC_000020.9:g.57047397A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355937.9:c.33-313T>C MANE Select | ENSP00000348206.4:n.33-313T>C | |
ENST00000355937.8:c.33-313T>C | ENSP00000348206.4:n.33-313T>C | |
ENST00000371033.9:c.33-313T>C | ENSP00000360072.5:n.33-313T>C | |
ENST00000463057.1:c.33-313T>C | ENSP00000431440.1:n.33-313T>C | |
ENST00000466051.1:n.112-313T>C | ||
NM_001256403.1:c.33-313T>C | NP_001243332.1:n.33-313T>C | |
NM_016045.2:c.33-313T>C | NP_057129.2:n.33-313T>C | |
NR_037929.1:n.149-313T>C | ||
NR_037930.1:n.149-2187T>C | ||
NM_016045.3:c.33-313T>C MANE Select | NP_057129.2:n.33-313T>C | |
NM_001256403.2:c.33-313T>C | NP_001243332.1:n.33-313T>C |