HGVS | Genome Assembly |
---|---|
NC_000002.12:g.191014698T>G , CM000664.2:g.191014698T>G | GRCh38 |
NC_000002.11:g.191879424T>G , CM000664.1:g.191879424T>G | GRCh37 |
NC_000002.10:g.191587669T>G | NCBI36 |
NG_008294.1:g.4553A>C , LRG_111:g.4553A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000432058.1:c.-155-1020A>C | ENSP00000416019.1:n.-155-1020A>C | |
ENST00000454414.5:c.-1-4694A>C | ENSP00000411398.1:n.-1-4694A>C |