HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50944095G>A , CM000676.2:g.50944095G>A | GRCh38 |
NC_000014.8:g.51410813G>A , CM000676.1:g.51410813G>A | GRCh37 |
NC_000014.7:g.50480563G>A | NCBI36 |
NG_012796.1:g.5436C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000216392.8:c.243+66C>T MANE Select | ENSP00000216392.7:n.243+66C>T | |
ENST00000216392.7:c.243+66C>T | ENSP00000216392.7:n.243+66C>T | |
ENST00000530336.2:n.310+66C>T | ||
ENST00000532462.5:c.243+66C>T | ENSP00000431657.1:n.243+66C>T | |
ENST00000544180.6:c.243+66C>T | ENSP00000443787.1:n.243+66C>T | |
NM_001163940.1:c.243+66C>T | NP_001157412.1:n.243+66C>T | |
NM_002863.4:c.243+66C>T | NP_002854.3:n.243+66C>T | |
NM_002863.5:c.243+66C>T MANE Select | NP_002854.3:n.243+66C>T | |
NM_001163940.2:c.243+66C>T | NP_001157412.1:n.243+66C>T |