HGVS | Genome Assembly |
---|---|
NC_000002.12:g.191014705G>C , CM000664.2:g.191014705G>C | GRCh38 |
NC_000002.11:g.191879431G>C , CM000664.1:g.191879431G>C | GRCh37 |
NC_000002.10:g.191587676G>C | NCBI36 |
NG_008294.1:g.4546C>G , LRG_111:g.4546C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432058.1:c.-155-1027C>G | ENSP00000416019.1:n.-155-1027C>G | |
ENST00000454414.5:c.-1-4701C>G | ENSP00000411398.1:n.-1-4701C>G |