HGVS | Genome Assembly |
---|---|
NC_000011.10:g.2444961G>C , CM000673.2:g.2444961G>C | GRCh38 |
NC_000011.9:g.2466191G>C , CM000673.1:g.2466191G>C | GRCh37 |
NC_000011.8:g.2422767G>C | NCBI36 |
NG_008935.1:g.4971G>C , LRG_287:g.4971G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000496887.7:c.23+253G>C | ENSP00000434560.2:n.23+253G>C | |
ENST00000496887.6:c.23+253G>C | ENSP00000434560.1:n.23+253G>C |