HGVS | Genome Assembly |
---|---|
NC_000019.10:g.51751943A>G , CM000681.2:g.51751943A>G | GRCh38 |
NC_000019.9:g.52255196A>G , CM000681.1:g.52255196A>G | GRCh37 |
NC_000019.8:g.56947008A>G | NCBI36 |
NG_023426.1:g.4955T>C , LRG_146:g.4955T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000594900.2:c.-11-4938T>C | ENSP00000470750.2:n.-11-4938T>C | |
ENST00000594900.1:c.-11-4938T>C | ENSP00000470750.1:n.-11-4938T>C |