HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50914676T>G , CM000676.2:g.50914676T>G | GRCh38 |
NC_000014.8:g.51381394T>G , CM000676.1:g.51381394T>G | GRCh37 |
NC_000014.7:g.50451144T>G | NCBI36 |
NG_012796.1:g.34855A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216392.8:c.1518+25A>C MANE Select | ENSP00000216392.7:n.1518+25A>C | |
ENST00000216392.7:c.1518+25A>C | ENSP00000216392.7:n.1518+25A>C | |
ENST00000532462.5:c.1518+25A>C | ENSP00000431657.1:n.1518+25A>C | |
ENST00000544180.6:c.1416+25A>C | ENSP00000443787.1:n.1416+25A>C | |
NM_001163940.1:c.1416+25A>C | NP_001157412.1:n.1416+25A>C | |
NM_002863.4:c.1518+25A>C | NP_002854.3:n.1518+25A>C | |
NM_002863.5:c.1518+25A>C MANE Select | NP_002854.3:n.1518+25A>C | |
NM_001163940.2:c.1416+25A>C | NP_001157412.1:n.1416+25A>C |