HGVS | Genome Assembly |
---|---|
NC_000002.12:g.191014750C>G , CM000664.2:g.191014750C>G | GRCh38 |
NC_000002.11:g.191879476C>G , CM000664.1:g.191879476C>G | GRCh37 |
NC_000002.10:g.191587721C>G | NCBI36 |
NG_008294.1:g.4501G>C , LRG_111:g.4501G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000432058.1:c.-155-1072G>C | ENSP00000416019.1:n.-155-1072G>C | |
ENST00000454414.5:c.-1-4746G>C | ENSP00000411398.1:n.-1-4746G>C |